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FAM57B family with sequence similarity 57 member B [ Homo sapiens (human) ]

Gene ID: 83723, updated on 8-Oct-2018

Summary

Official Symbol
FAM57Bprovided by HGNC
Official Full Name
family with sequence similarity 57 member Bprovided by HGNC
Primary source
HGNC:HGNC:25295
See related
Ensembl:ENSG00000149926 MIM:615175; Vega:OTTHUMG00000132105
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FP1188
Summary
This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Expression
Restricted expression toward testis (RPKM 12.4) See more
Orthologs

Genomic context

See FAM57B in Genome Data Viewer
Location:
16p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (30024423..30053026, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30035748..30064338, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene HIRA interacting protein 3 Neighboring gene INO80 complex subunit E Neighboring gene double C2 domain alpha Neighboring gene chromosome 16 open reading frame 92 Neighboring gene aldolase, fructose-bisphosphate A Neighboring gene protein phosphatase 4 catalytic subunit

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • FLJ40208, DKFZp434I2117

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sphingosine N-acyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
ceramide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein FAM57B
Names
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001318504.1NP_001305433.1  protein FAM57B isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL136777, BM676198
    Consensus CDS
    CCDS81967.1
    UniProtKB/Swiss-Prot
    Q71RH2
    Related
    ENSP00000279389.4, OTTHUMP00000162981, ENST00000279389.8, OTTHUMT00000255143
    Conserved Domains (1) summary
    smart00724
    Location:15211
    TLC; TRAM, LAG1 and CLN8 homology domains
  2. NM_001352173.1NP_001339102.1  protein FAM57B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC093512, BM676198
    Conserved Domains (1) summary
    smart00724
    Location:126347
    TLC; TRAM, LAG1 and CLN8 homology domains
  3. NM_031478.5NP_113666.2  protein FAM57B isoform 1

    See identical proteins and their annotated locations for NP_113666.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform.
    Source sequence(s)
    AB593089, AL535138, BM676198, BQ185065
    Consensus CDS
    CCDS10667.2
    UniProtKB/Swiss-Prot
    Q71RH2
    UniProtKB/TrEMBL
    F1T0F5
    Related
    ENSP00000369863.4, OTTHUMP00000162980, ENST00000380495.8, OTTHUMT00000255142
    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    30024423..30053026 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450466.1XP_024306234.1  protein FAM57B isoform X3

    Conserved Domains (1) summary
    smart00724
    Location:15211
    TLC; TRAM, LAG1 and CLN8 homology domains
  2. XM_017023754.1XP_016879243.1  protein FAM57B isoform X3

    UniProtKB/Swiss-Prot
    Q71RH2
    Conserved Domains (1) summary
    smart00724
    Location:15211
    TLC; TRAM, LAG1 and CLN8 homology domains
  3. XM_005255614.3XP_005255671.1  protein FAM57B isoform X2

    See identical proteins and their annotated locations for XP_005255671.1

    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains
  4. XM_017023752.1XP_016879241.1  protein FAM57B isoform X2

    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains
  5. XM_005255613.3XP_005255670.1  protein FAM57B isoform X2

    See identical proteins and their annotated locations for XP_005255670.1

    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains
  6. XM_017023751.1XP_016879240.1  protein FAM57B isoform X2

    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains
  7. XM_005255615.3XP_005255672.1  protein FAM57B isoform X2

    See identical proteins and their annotated locations for XP_005255672.1

    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains
  8. XM_017023750.2XP_016879239.1  protein FAM57B isoform X2

    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains
  9. XM_024450464.1XP_024306232.1  protein FAM57B isoform X1

    Conserved Domains (1) summary
    smart00724
    Location:75296
    TLC; TRAM, LAG1 and CLN8 homology domains
  10. XM_024450465.1XP_024306233.1  protein FAM57B isoform X2

    Conserved Domains (1) summary
    smart00724
    Location:40261
    TLC; TRAM, LAG1 and CLN8 homology domains
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