C2CD4D

Last updated
C2CD4D
Identifiers
Aliases C2CD4D , FAM148D, C2 calcium-dependent domain containing 4D, C2 calcium dependent domain containing 4D
External IDs MGI: 2685505 HomoloGene: 86310 GeneCards: C2CD4D
Orthologs
SpeciesHumanMouse
Entrez

100191040

271944

Ensembl

ENSG00000225556

ENSMUSG00000091648

UniProt

B7Z1M9

P0CG09

RefSeq (mRNA)

NM_001136003
NM_001394591
NM_001394592
NM_001394593

Contents

NM_001136117

RefSeq (protein)

NP_001129475

NP_001129589

Location (UCSC) Chr 1: 151.84 – 151.84 Mb Chr 3: 94.36 – 94.36 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

C2CD4D, or C2 calcium-dependent domain-containing protein 4D is a protein product of the human genome. The gene that codes for this protein is found on chromosome 1, from 150,076,963 to 150,079,657. The gene contains 2 exons and encodes 353 amino acids. Synonyms for C2CD4D are "FAM148D" [5] and NP_001129475. C2CD4D contains a conserved metal binding domain that is a known as Protein kinase C conserved region 2, subgroup 1. This motif is known to be a member of the C2 superfamily, which is present in phospholipases, protein kinases C, and synaptotagmins. [6] The amino acid sequence of C2CD4D can be accessed at Prior to any post translational modification, C2CD4D has a molecular weight of 37.6 kdal. [7] Although scientists have not yet determined where C2CD4D functions within the cell, C2CD4D has a predicted isoelectric point of 11.636 which severely limits the places in which it can be effective. In addition, C2CD4D does not contain any predicted transmembrane domains or any predicted signal peptides.

Expression

According to the National Center for Biotechnology Information, C2CD4D has only been found to be expressed in adult individuals with some form of cancer. [8] C2CD4D is not ubiquitously expressed, and thus far scientists have only found C2CD4D expressed in the tissues of the brain, intestine, and mammary gland.

Evolutionary conservation

There are 52 known mammalian orthologs for C2CD4D, [9] found in at least 10 species including Pan troglodytes, Ornithorhynchus anatinus, and Sus scrofa . There are a total of 38 completely conserved residues across these 10 species, corresponding to 10.76% conservation. Within vertebrates conservation remains high at 33 residues, corresponding to 9.3%. However, outside of vertebrates, conservation drops to a maximum of 1.98%, or 3 residues. [10]

Related Research Articles

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METTL26

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WWC2

WW and C2 domain containing 2 (WWC2) is a protein that in humans is encoded by the WWC2 gene (4q35.1). Though function of WWC2 remains unknown, it has been predicted that WWC2 may play a role in cancer.

TM6SF2

TM6SF2 is the Transmembrane 6 superfamily 2 human gene which codes for a protein by the same name. This gene is otherwise called KIAA1926. Its exact function is currently unknown.

FAM63A

Family with sequence similarity 63, member A is a protein that, in humans, is encoded by the FAM63A gene. It is located on the minus strand of chromosome 1 at locus 1q21.3.

C5orf34 is a protein that in humans is encoded by the C5orf34 gene (5p12).

PROSER2, also known as proline and serine rich 2, is a protein that in humans is encoded by the PROSER2 gene. PROSER2, or c10orf47(Chromosome 10 open reading frame 47), is found in band 14 of the short arm of chromosome 10 (10p14) and contains a highly conserved SARG domain. It is a fast evolving gene with two paralogs, c1orf116 and specifically androgen-regulated gene protein isoform 1. The PROSER2 protein has a currently uncharacterized function however, in humans, it may play a role in cell cycle regulation, reproductive functioning, and is a potential biomarker of cancer.

C11orf86

Chromosome 11 open reading frame 86, also known as C11orf86, is a protein-coding gene in humans. It encodes for a protein known as uncharacterized protein C11orf86, which is predicted to be a nuclear protein. The function of this protein is currently unknown.

ANKRD24

Ankyrin repeat domain-containing protein 24 is a protein in humans that is coded for by the ANKRD24 gene. The gene is also known as KIAA1981. The protein's function in humans is currently unknown. ANKRD24 is in the protein family that contains ankyrin-repeat domains.

Chromosome 16 open reading frame 95 (C16orf95) is a gene which in humans encodes the protein C16orf95. It has orthologs in mammals, and is expressed at a low level in many tissues. C16orf95 evolves quickly compared to other proteins.

FAM210B

FAM210B is a gene that which in Homo sapiens encodes the protein FAM210B. It has been conserved throughout evolutionary history, and is highly expressed in multiple tissues within the human body. FAM210B's primary location is the endoplasmic reticulum.

PRR29

PRR29 is a protein located on human chromosome 17 that in humans is encoded by the PRR29 gene.

OCC-1 is a protein, which in humans is encoded by the gene C12orf75. The gene is approximately 40,882 bp long and encodes 63 amino acids. OCC-1 is ubiquitously expressed throughout the human body. OCC-1 has shown to be overexpressed in various colon carcinomas. Novel splice variant of this gene was also detected in various human cancer types; in addition to encoding a novel smaller protein, OCC-1 gene produces a non-protein coding RNA splice variant lncRNA.

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KIAA1211L

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C6orf62

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LOC101059915

LOC101059915 is a protein, which in humans is encoded by the LOC101059915 gene. It is located on the X chromosome and has restricted expression in the testis.

SMCO3

Single-pass membrane and coiled-coil domain-containing protein 3 is a protein that is encoded in humans by the SMCO3 gene.

FAM98C

Family with sequence 98, member C or FAM98C is a gene that encodes for FAM98C has two aliases FLJ44669 and hypothetical protein LOC147965. FAM98C has two paralogs in humans FAM98A and FAM98B. FAM98C can be characterized for being a Leucine-rich protein. The function of FAM98C is still not defined. FAM98C has orthologs in mammals, reptiles, and amphibians and has a distant orhtologs in Rhinatrema bivittatum and Nanorana parkeri.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000225556 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000091648 - 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. ↑ "C2 calcium-dependent domain-containing protein 4D [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov.
  6. ↑ NCBI https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=119477
  7. ↑ Workbench, NCSA Biology. "SDSC Biology Workbench". workbench.sdsc.edu.
  8. ↑ National Center for Biotechnology Information
  9. ↑ "NCBI Blast". blast.ncbi.nlm.nih.gov.
  10. ↑ alignment data determined using the ClustalW tool available at http://workbench.sdsc.edu and the relevant ortholog results returned from a blast search using the tool available at http://blast.ncbi.nlm.nih.gov
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