FAM13B

Last updated
Human Chromosome 5 Ideogram human chromosome 5.svg
Human Chromosome 5
FAM13B
Identifiers
Aliases FAM13B , ARHGAP49, C5orf5, FAM13B1, KHCHP, N61, family with sequence similarity 13 member B
External IDs OMIM: 609371; MGI: 2447834; HomoloGene: 9585; GeneCards: FAM13B; OMA:FAM13B - orthologs
Orthologs
SpeciesHumanMouse
Entrez

51306

225358

Ensembl

ENSG00000031003

ENSMUSG00000036501

UniProt

Q9NYF5

Q8K2H3

RefSeq (mRNA)

NM_001101800
NM_001101801
NM_016603

NM_146084

RefSeq (protein)

NP_001095270
NP_001095271
NP_057687

NP_666196

Location (UCSC) Chr 5: 137.94 – 138.05 Mb Chr 18: 34.58 – 34.64 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse
Tertiary Structure of the human FAM13B protein from AlphaFold Tertiary Structure FAM13B.png
Tertiary Structure of the human FAM13B protein from AlphaFold

Family with sequence similarity 13 member B is a protein which in humans is encoded by the FAM13B gene, [5] also known as C5ORF5. The FAM13B gene is found in vertebrates and jawed fish. FAM13B is expressed ubiquitously in human tissues [6] and has been linked to maglinant myelomas [7] susceptibility to atrial fibrillation, a cardiac arrhythmia. [8]

Contents

Molecular Features

Gene

The FAM13B gene is located on human chromosome 5q31, spanning 5610 base pairs and containing 23 exons. [6]

mRNA

There are 18 transcript variants, the longest mRNA contains 5610 base pairs. [6]

Expression

The FAM13B gene is expressed at high levels ubiquitously among human cell tissues with some variability, with the highest expression in the brain and the lowest expression in the liver. [6]

Protein

The longest protein product of FAM13B consists of 915 amino acids [9] with a molecular mass of 105kD. [10] FAM13B variants have the potential to encode several swapped proteins, including proteins with internal deletions, with different C termini, and with a deletion of the N terminus. [10] The protein has an isoelectric point of 4.9. [11] The human FAM13B protein is localized in the nucleoplasm and contains multiple peroxisomal targeting signals and nuclear localization signals. [12] The FAM13B protein has a lower amount of threonine and a higher amount of glutamate compared to other human proteins. [11]

The FAM13B contains 2 disordered region and 2 conserved domains: [6]

The RHOGAP domain is also found in the orthologs.

Annotated FAM13B protein, made from The CUCKOO Workgroup Nucleotide fam13b.png
Annotated FAM13B protein, made from The CUCKOO Workgroup

Post-translation modifications

The human FAM13B protein can undergo post-translational modifications including phosphorylation, acetylation, and methylation. [12]

Annotated post-translational modification sites on human FAM13B protein, made from The CUCKOO Workgroup Post mods fam13b.png
Annotated post-translational modification sites on human FAM13B protein, made from The CUCKOO Workgroup

Interacting proteins

The human FAM13B protein interacts with several proteins that are localized in the nucleoplasm, including RAC1, NME5, SPATA24, HIGD1A, PPP2CA, SAMHD1, UNK, YWHAZ. [15]

Evolution

Multiple sequence alignment of a conserved area of the FAM13B protein Fam13b strict orthologs msa.png
Multiple sequence alignment of a conserved area of the FAM13B protein

Orthologs

Orthologs of the FAM13B gene can be found in vertebrates including mammals, aves, reptiles, amphibians, and jawed fish. [6] There are no FAM13B orthologs found in invertebrates. FAM13B is more conserved in mammals, aves, and reptiles. FAM13B has a moderate mutation rate that is slower than Fibrinogen Alpha Chain but faster than Cytochrome C.

Table of selected orthologs from all animal groups
Genus and SpeciesCommon NameEstimated Divergence (MYA)Accession NumberAmino Acid LengthSequence Similarity (%)
Homo sapiens Humans0NP_001372850915100
Macaca mulatta Rhesus monkey28.8NP_00124787791699.2
Mus musculus House mouse87NP_66619685187.3
Alligator sinesis Chinese alligator319XP_00602691893087.0
Gallus gallus Chicken319NP_00126467490585.9
Xenopus tropicalis Tropical clawed frog352XP_00293367983172.0
Amblyraja radiata Thorny skate462XP_03288527782558.4

Paralogs

The human FAM13B gene has two paralogs, FAM13A [16] and FAM13C. [17] Similar to FAM13B, the FAM13A and FAM13C are found in vertebrates including mammals, aves, reptiles, amphibians, and jawed fish. The paralogs are not found in invertebrates.

Clinical significance

FAM13B is frequently deleted in malignant myelomas, suggesting its potential role in cancer development. [7] Altered expression of FAM13B has been linked to susceptibility to atrial fibrillation, [7] a cardiac arrhythmia. [8]

Related Research Articles

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<span class="mw-page-title-main">FAM227a</span> Protein

FAM227A is a protein that in humans is encoded by FAM227A gene. Current studies have determined the location of this gene to be in the nuclear region of the cell. FAM227A is most highly expressed in the tissues of the fallopian tube, testis, and pituitary gland. FAM227A is present in species of mammals, birds and reptiles, and gene alignment sequences have shown that FAM227A is a rapidly evolving gene.

<span class="mw-page-title-main">PROB1</span> Protein-coding gene in the species Homo sapiens

Proline-rich basic protein 1(PROB1) is a protein encoded by the PROB1 gene located on human chromosome 5, open reading frame 65. PROB1 is also known as C5orf65 and weakly similar to basic proline-rich protein.

<span class="mw-page-title-main">C16orf86</span> Protein-coding gene in the species Homo sapiens

Uncharacterized protein C16orf86 is a protein in humans that is encoded by the C16orf86 gene. It is mostly made of alpha helices and it is expressed in the testes, but also in other tissues such as the kidney, colon, brain, fat, spleen, and liver. For the function of C16orf86, it is not well understood, however it could be a transcription factor in the nucleus that regulates G0/G1 in the cell cycle for tissues such as the kidney, brain, and skeletal muscles as mentioned in the DNA microarray data below in the gene level regulation section.

<span class="mw-page-title-main">FAM178B</span> Protein coding

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<span class="mw-page-title-main">C17orf78</span> Mammalian protein found in Homo sapiens

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<span class="mw-page-title-main">TMEM169</span> Gene

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<span class="mw-page-title-main">C22orf15</span> Protein-coding gene in the species Homo sapiens

C22orf15 is a protein which, in humans, is encoded by the C22orf15 gene.

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<span class="mw-page-title-main">C5orf22</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Chromosome 12 open reading frame 71</span> Protein encoded in humans by c12orf71 gene

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<span class="mw-page-title-main">FAM131A</span> Human gene and the protein it encodes

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<span class="mw-page-title-main">LRRC74A</span> Protein-coding gene

Leucine-rich repeat-containing protein 74A (LRRC74A), is a protein encoded by the LRRC74A gene. The protein LRRC74A is localized in the cytoplasm. It has a calculated molecular weight of approximately 55 kDa. The LRRC74A protein is nominally expressed in the testis, salivary gland, and pancreas.

<span class="mw-page-title-main">ZFP62</span> Gene in Humans

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000031003 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036501 – 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. ↑ "FAM13B family with sequence similarity 13 member B [Homo sapiens (human)] - Gene". National Center for Biotechnology Information (NCBI). U.S. National Library of Medicine.
  6. 1 2 3 4 5 6 "FAM13B family with sequence similarity 13 member B [Homo sapiens (human)] - Gene". National Center for Biotechnology Information (NCBI). U.S. National Library of Medicine. Retrieved 2023-12-07.
  7. 1 2 3 Lai F, Godley LA, Joslin J, Fernald AA, Liu J, Espinosa R, et al. (January 2001). "Transcript map and comparative analysis of the 1.5-Mb commonly deleted segment of human 5q31 in malignant myeloid diseases with a del(5q)". Genomics. 71 (2): 235–245. doi:10.1006/geno.2000.6414. PMID   11161817.
  8. 1 2 Hsu J, Gore-Panter S, Tchou G, Castel L, Lovano B, Moravec CS, et al. (March 2018). "Genetic Control of Left Atrial Gene Expression Yields Insights into the Genetic Susceptibility for Atrial Fibrillation". Circulation: Genomic and Precision Medicine. 11 (3): e002107. doi:10.1161/CIRCGEN.118.002107. PMC   5858469 . PMID   29545482.
  9. ↑ "protein FAM13B isoform 1 [Homo sapiens] - Protein". National Center for Biotechnology Information (NCBI). U.S. National Library of Medicine. Retrieved 2023-12-15.
  10. 1 2 Lai F, Godley LA, Fernald AA, Orelli BJ, Pamintuan L, Zhao N, Le Beau MM (November 2000). "cDNA cloning and genomic structure of three genes localized to human chromosome band 5q31 encoding potential nuclear proteins". Genomics. 70 (1): 123–130. doi:10.1006/geno.2000.6345. PMID   11087669.
  11. 1 2 "SAPS < Sequence Statistics". Statistical Analysis of Protein Sequences. European Bioinformatics Institute. Retrieved 2023-12-15.
  12. 1 2 "PSORT II Prediction". psort.hgc.jp. Retrieved 2023-12-07.
  13. ↑ Moon SY, Zheng Y (January 2003). "Rho GTPase-activating proteins in cell regulation". Trends in Cell Biology. 13 (1): 13–22. doi:10.1016/S0962-8924(02)00004-1. PMID   12480336.
  14. ↑ Ohlenschläger O, Kuhnert A, Schneider A, Haumann S, Bellstedt P, Keller H, et al. (September 2012). "The N-terminus of the human RecQL4 helicase is a homeodomain-like DNA interaction motif". Nucleic Acids Research. 40 (17): 8309–8324. doi:10.1093/nar/gks591. PMC   3458545 . PMID   22730300.
  15. ↑ "FAM13B Interaction Network". IntAct Portal. European Bioinformatics Institute. Retrieved 2023-12-07.
  16. ↑ "Gene: FAM13A (ENSG00000138640) - Paralogues - Homo_sapiens - Ensembl genome browser 110". useast.ensembl.org. Retrieved 2023-12-15.
  17. ↑ "Gene: FAM13C (ENSG00000148541) - Paralogues - Homo_sapiens - Ensembl genome browser 110". useast.ensembl.org. Retrieved 2023-12-15.
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