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]

Human Chromosome 5
FAM13B
Identifiers
AliasesFAM13B, ARHGAP49, C5orf5, FAM13B1, KHCHP, N61, family with sequence similarity 13 member B
External IDsOMIM: 609371; MGI: 2447834; HomoloGene: 9585; GeneCards: FAM13B; OMA:FAM13B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 18: 34.58 – 34.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Tertiary Structure of the human FAM13B protein from AlphaFold

Molecular Features

edit

Gene

edit

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

mRNA

edit

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

Expression

edit

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

edit

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

Post-translation modifications

edit

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

Interacting proteins

edit

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

edit
 
Multiple sequence alignment of a conserved area of the FAM13B protein

Orthologs

edit

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 Species Common Name Estimated Divergence (MYA) Accession Number Amino Acid Length Sequence Similarity (%)
Homo sapiens Humans 0 NP_001372850 915 100
Macaca mulatta Rhesus monkey 28.8 NP_001247877 916 99.2
Mus musculus House mouse 87 NP_666196 851 87.3
Alligator sinesis Chinese alligator 319 XP_006026918 930 87.0
Gallus gallus Chicken 319 NP_001264674 905 85.9
Xenopus tropicalis Tropical clawed frog 352 XP_002933679 831 72.0
Amblyraja radiata Thorny skate 462 XP_032885277 825 58.4

Paralogs

edit

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

edit

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]

References

edit
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000031003Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036501Ensembl, 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. ^ a b c d e f "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. ^ a b c 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. ^ a b 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. ^ a b 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. ^ a b "SAPS < Sequence Statistics". Statistical Analysis of Protein Sequences. European Bioinformatics Institute. Retrieved 2023-12-15.
  12. ^ a b "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.