SH3D21

Last updated
SH3D21
Identifiers
Aliases SH3D21 , C1orf113, SH3 domain containing 21
External IDs MGI: 1914188 HomoloGene: 12057 GeneCards: SH3D21
Orthologs
SpeciesHumanMouse
Entrez

79729

66938

Ensembl

ENSG00000214193

ENSMUSG00000073758

UniProt

A4FU49

Q7TSG5

RefSeq (mRNA)

NM_001162530
NM_024676

NM_001162533
NM_025856

RefSeq (protein)

NP_001156002
NP_078952

NP_001156005
NP_080132

Location (UCSC) Chr 1: 36.31 – 36.33 Mb Chr 4: 126.15 – 126.16 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

SH3D21 is a nuclear protein that is encoded by the SH3D21 gene. In humans, this gene is located on chromosome 1 p34.3. [5] The human mRNA transcript is 2527 base pairs and the final protein product is 756 amino acids. [6] While the exact function of this protein remains unknown, due to the presence of three SH3 domains, it has been implicated in protein-protein interactions. [7]

Contents

Gene

SH3D21 is expressed in low levels in most tissue. [8] Microarray analysis has shown SH3D21 expression to be decreased in TP63 knockout mice. [9] SH3D21 has been shown to be expressed highly in the superior cervical ganglion, the dorsal root ganglia and the trigeminal ganglion. [8] [10] Transcription of SH3D21 is known to be upregulated in the presence of testosterone. [11]

Protein

SH3D21 contains three SH3 domains. [7] [12] [13] These domains are located near the N-terminus of the protein. In humans, these SH3 domains have a common amino acid sequence Asp-Glu-Leu. This sequence motif is also conserved in other species. SH3D21 has been found to interact with Adenylate Kinase 2, Artemin, and Importin 13. [5] The human protein has two isoforms and no paralogs. [6] The second isoform is 645 amino acids long and is identical to the first isoform, except it is missing the first 111 amino acids. [14] Due to this, the second isoform is missing the first, and half of the second, N-terminal SH3 domain. [14] Secondary structure analysis of SH3D21 indicates a long alpha helical structure near the C-terminus. [15] [16] The purpose of this structure is unknown. SH3D21 is predicted to have many phosphorylation sites and multiple sumoylation sites throughout the entirety of the protein. [17] [18]

This image is a multiple sequence alignment of the three SH3 domains found in the human SH3D21 protein. Note the conserved Asp-Glu-Leu motif. This image was generated using publicly available sequence data and open source software. Human SH3D21 SH3 Domain analysis.PNG
This image is a multiple sequence alignment of the three SH3 domains found in the human SH3D21 protein. Note the conserved Asp-Glu-Leu motif. This image was generated using publicly available sequence data and open source software.

Function

The function of this gene is still unclear. However, research has linked SH3D21 expression changes to male infertility and Ataxia Telangiectasia. [19] [20] Further studies have implicated the chromosomal region of 1p34.3 in Intracranial Aneurysm and as a negative prognosis sign in colorectal cancer. [21] [22] These studies do not, however, directly mention SH3D21.

Homology

Phylogenetic tree generated using open source, free software and publicly available sequence data. SH3D21 Phylogenetic Tree.PNG
Phylogenetic tree generated using open source, free software and publicly available sequence data.

SH3D21 is well-conserved in mammals. BLAST analysis found distant orthologs in Osteichthyes with a max identity of 28%. [23] Sequence identity was calculated using available sequence data and ALIGN software. [24]

SpeciesSpecies common nameNCBI Accession Number (Protein)Length (aa)Sequence Identity
Homo sapiensHuman NP_001156002 756aa100%
Gorilla gorillaGorilla XP_004025512 761 aa97.1%
Pongo abeliiOrangutan XP_002811093 755aa94.9%
Macaca mulattaMacaques XP_001110607 755aa91.4%
Papia anubirOlive Baboon XP_003891645/761aa91.2%
Saimiri boliviensisBlack Capped Squirrel Monkey XP_003308029 650aa82.0%
Bos taurusCattle NP_001156006 676aa58.70%
Cavia porcellusGuinea pig XP_003471528 658aa52.60%
Oreochromis niloticusNile Talapia XP_003450596 505aa28.1%

Related Research Articles

<span class="mw-page-title-main">SOGA2</span> Protein-coding gene in the species Homo sapiens

SOGA2, also known as Suppressor of glucose autophagy associated 2 or CCDC165, is a protein that in humans is encoded by the SOGA2 gene. SOGA2 has two human paralogs, SOGA1 and SOGA3. In humans, the gene coding sequence is 151,349 base pairs long, with an mRNA of 6092 base pairs, and a protein sequence of 1586 amino acids. The SOGA2 gene is conserved in gorilla, baboon, galago, rat, mouse, cat, and more. There is distant conservation seen in organisms such as zebra finches and anoles. SOGA2 is ubiquitously expressed in humans, with especially high expression in brain, colon, pituitary gland, small intestine, spinal cord, testis and fetal brain.

<span class="mw-page-title-main">CCDC113</span> Protein-coding gene in the species Homo sapiens

Coiled-coil domain-containing protein 113 also known as HSPC065, GC16Pof6842 and GC16P044152, is a protein that in humans is encoded by the CCDC113 gene. The human CCDC113 gene is located on chromosome 16q21 and encodes 5,304 base pairs of mRNA and 377 amino acids.

<span class="mw-page-title-main">Morn repeat containing 1</span> Protein-coding gene in the species Homo sapiens

MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene.

<span class="mw-page-title-main">Fam158a</span> Protein-coding gene in the species Homo sapiens

UPF0172 protein FAM158A, also known as c14orf122 or CGI112, is a protein that in humans is encoded by the FAM158A gene located on chromosome 14q11.2.

<span class="mw-page-title-main">KIAA0922</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 131-like, alternatively named uncharacterized protein KIAA0922, is an integral transmembrane protein encoded by the human gene KIAA0922 that is significantly conserved in eukaryotes, at least through protists. Although the function of this gene is not yet fully elucidated, initial microarray evidence suggests that it may be involved in immune responses. Furthermore, its paralog, prolyl endopeptidase (PREP) whose function is known, provides clues as to the function of TMEM131L.

<span class="mw-page-title-main">Alpha-1-B glycoprotein</span> Protein-coding gene in the species Homo sapiens

Alpha-1-B glycoprotein is a 54.3 kDa protein in humans that is encoded by the A1BG gene. The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. Patients who have pancreatic ductal adenocarcinoma show an overexpression of A1BG in pancreatic juice.

<span class="mw-page-title-main">ARMH3</span> Protein-coding gene in the species Homo sapiens

ARMH3 or Armadillo Like Helical Domain Containing 3, also known as UPF0668 and c10orf76, is a protein that in humans is encoded by the ARMH3 gene. Its function is not currently known, but experimental evidence has suggested that it may be involved in transcriptional regulation. The protein contains a conserved proline-rich motif, suggesting that it may participate in protein-protein interactions via an SH3-binding domain, although no such interactions have been experimentally verified. The well-conserved gene appears to have emerged in Fungi approximately 1.2 billion years ago. The locus is alternatively spliced and predicted to yield five protein variants, three of which contain a protein domain of unknown function, DUF1741.

<span class="mw-page-title-main">FAM214A</span> Protein-coding gene in the species Homo sapiens

Protein FAM214A, also known as protein family with sequence similarity 214, A (FAM214A) is a protein that, in humans, is encoded by the FAM214A gene. FAM214A is a gene with unknown function found at the q21.2-q21.3 locus on Chromosome 15 (human). The protein product of this gene has two conserved domains, one of unknown function (DUF4210) and another one called Chromosome_Seg. Although the function of the FAM214A protein is uncharacterized, both DUF4210 and Chromosome_Seg have been predicted to play a role in chromosome segregation during meiosis.

<span class="mw-page-title-main">Tetratricopeptide repeat protein 39B</span> Protein-coding gene in the species Homo sapiens

Tetratricopeptide repeat protein 39B is a protein that in humans is encoded by the TTC39B gene. TTC39B is also known as C9orf52 or FLJ33868. The main feature within tetratricopeptide repeat 39B is the domain of unknown function 3808 (DUF3808), spanning the majority of the protein.

<span class="mw-page-title-main">FAM167A</span> Protein-coding gene in the species Homo sapiens

Family with sequence similarity 167, member A is a protein in humans that is encoded by the FAM167A gene located on chromosome 8. FAM167A and its paralogs are protein encoding genes containing the conserved domain DUF3259, a protein of unknown function. FAM167A has many orthologs in which the domain of unknown function is highly conserved.

<span class="mw-page-title-main">DEPDC1B</span> Protein-coding gene in the species Homo sapiens

DEP Domain Containing Protein 1B also known as XTP1, XTP8, HBV XAg-Transactivated Protein 8, [formerly referred to as BRCC3] is a human protein encoded by a gene of similar name located on chromosome 5.

<span class="mw-page-title-main">FAM71F2</span> Protein-coding gene in the species Homo sapiens

FAM71F2 or Family with Sequence Similarity 71 member F2 is a protein that in humans is encoded by the Family with Sequence Similarity 71 member F2 gene. This gene is highly active in the reproductive tissues, specifically the testis, and may serve as a potential biomarker for determining metastatic testicular cancer.

<span class="mw-page-title-main">Transmembrane protein 255A</span> Mammalian protein found in Homo sapiens

Transmembrane protein 255A is a protein that is encoded by the TMEM255A gene. TMEM255A is often referred to as family with sequence similarity 70, member A (FAM70A). The TMEM255A protein is transmembrane and is predicted to be located the nuclear envelope of eukaryote organisms.

<span class="mw-page-title-main">C21orf58</span> Protein-coding gene in the species Homo sapiens

Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.

<span class="mw-page-title-main">C1orf112</span> Protein-coding gene in the species Homo sapiens

Chromosome 1 open reading frame 112, is a protein that in humans is encoded by the C1orf112 gene, and is located at position 1q24.2. C1orf112 encodes for seventeen variants of mRNA, fifteen of which are functional proteins. C1orf112 has a determined precursor molecular weight of 96.6 kDa and an isoelectric point of 5.62. C1orf112 has been experimentally determined to localize to the mitochondria, although it does not contain a mitochondrial targeting sequence.

<span class="mw-page-title-main">C2orf16</span> Protein-coding gene in the species Homo sapiens

C2orf16 is a protein that in humans is encoded by the C2orf16 gene. Isoform 2 of this protein is 1,984 amino acids long. The gene contains 1 exon and is located at 2p23.3. Aliases for C2orf16 include Open Reading Frame 16 on Chromosome 2 and P-S-E-R-S-H-H-S Repeats Containing Sequence.

<span class="mw-page-title-main">FAM155B</span> Protein-coding gene in the species Homo sapiens

Family with Sequence Similarity 155 Member B is a protein in humans that is encoded by the FAM155B gene. It belongs to a family of proteins whose function is not yet well understood by the scientific community. It is a transmembrane protein that is highly expressed in the heart, thyroid, and brain.

<span class="mw-page-title-main">C9orf85</span> Protein-coding gene in the species Homo sapiens

Chromosome 9 open reading frame 85, commonly known as C9orf85, is a protein in Homo sapiens encoded by the C9orf85 gene. The gene is located at 9q21.13. When spliced, four different isoforms are formed. C9orf85 has a predicted molecular weight of 20.17 kdal. Isoelectric point was found to be 9.54. The function of the gene has not yet been confirmed, however it has been found to show high levels of expression in cells of high differentiation.

<span class="mw-page-title-main">CCDC190</span> Protein-coding gene in the species Homo sapiens

Coiled-Coil Domain Containing 190, also known as C1orf110, the Chromosome 1 Open Reading Frame 110, MGC48998 and CCDC190, is found to be a protein coding gene widely expressed in vertebrates. RNA-seq gene expression profile shows that this gene selectively expressed in different organs of human body like lung brain and heart. The expression product of c1orf110 is often called Coiled-coil domain-containing protein 190 with a size of 302 aa. It may get the name because a coiled-coil domain is found from position 14 to 72. At least 6 spliced variants of its mRNA and 3 isoforms of this protein can be identified, which is caused by alternative splicing in human.

<span class="mw-page-title-main">SCRN3</span> Protein-coding gene in the species Homo sapiens

Secernin-3 (SCRN3) is a protein that is encoded by the human SCRN3 gene. SCRN3 belongs to the peptidase C69 family and the secernin subfamily. As a part of this family, the protein is predicted to enable cysteine-type exopeptidase activity and dipeptidase activity, as well as be involved in proteolysis. It is ubiquitously expressed in the brain, thyroid, and 25 other tissues. Additionally, SCRN3 is conserved in a variety of species, including mammals, birds, fish, amphibians, and invertebrates. SCRN3 is predicted to be an integral component of the cytoplasm.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000214193 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000073758 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "SH3D21". Genecards. Retrieved 3 May 2013.
  6. 1 2 "SH3D21". Gene. NCBI. Retrieved 8 May 2013.
  7. 1 2 "Conserved Domain Analysis of SH3D21". NCBI Conserved Domain Search. Retrieved 2 May 2013.
  8. 1 2 "BioGPS Expression Profile" . Retrieved 2 May 2013.
  9. ↑ "Transcription factor p63 null mutation effect on skin (MG-U74B)" . Retrieved 1 March 2013.
  10. ↑ "GEO Expression Profile". GEO Database. Retrieved 2 May 2013.
  11. ↑ "Chemical Interaction Report" . Retrieved 1 March 2013.
  12. ↑ Pawson T, Schlessingert J (July 1993). "SH2 and SH3 domains". Current Biology. 3 (7): 434–42. doi:10.1016/0960-9822(93)90350-W. PMID   15335710. S2CID   53273571.
  13. ↑ Mayer BJ (April 2001). "SH3 domains: complexity in moderation". Journal of Cell Science. 114 (Pt 7): 1253–63. doi:10.1242/jcs.114.7.1253. PMID   11256992.
  14. 1 2 "SH3 domain-containing protein 21 isoform 2". NCBI. Retrieved 9 May 2013.
  15. ↑ "Phyre 2 Secondary Structure Analysis" . Retrieved 14 May 2013.
  16. ↑ "PELE Analysis" . Retrieved 14 May 2013.[ permanent dead link ]
  17. ↑ "SUMOplot Analysis" . Retrieved 14 May 2013.
  18. ↑ "NetPhos 2.0 Analysis" . Retrieved 14 May 2013.
  19. ↑ Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, Sunderam U, Rana S, Srinivasan R, Brenner SE, Puck J (April 2013). "Newborn screening for SCID identifies patients with ataxia telangiectasia". Journal of Clinical Immunology. 33 (3): 540–9. doi:10.1007/s10875-012-9846-1. PMC   3591536 . PMID   23264026.
  20. ↑ Stouffs K, Vandermaelen D, Massart A, Menten B, Vergult S, Tournaye H, Lissens W (March 2012). "Array comparative genomic hybridization in male infertility". Human Reproduction. 27 (3): 921–9. doi: 10.1093/humrep/der440 . PMID   22238114.
  21. ↑ Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M (January 2005). "Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13". American Journal of Human Genetics. 76 (1): 172–9. doi:10.1086/426953. PMC   1196421 . PMID   15540160.
  22. ↑ Kashkin K, A.G. Perevoschoikov (May–June 2000). "Deletion of the Alu-VpA/MycL1(1p34.3) locus is a negative prognostic sign in human colorectal cancer". Molecular Biology. 34 (3): 337–344. doi:10.1007/bf02759663. S2CID   8301557.
  23. ↑ "BLAST". NCBI. Retrieved 3 May 2013.
  24. ↑ "Sequence Alignment". ALIGN. Archived from the original on 11 August 2003. Retrieved 8 May 2013.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.