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CFAP157 cilia and flagella associated protein 157 [ Homo sapiens (human) ]

Gene ID: 286207, updated on 25-Jan-2022

Summary

Official Symbol
CFAP157provided by HGNC
Official Full Name
cilia and flagella associated protein 157provided by HGNC
Primary source
HGNC:HGNC:27843
See related
Ensembl:ENSG00000160401 AllianceGenome:HGNC:27843
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C9orf117
Summary
Predicted to enable microtubule binding activity. Predicted to be involved in sperm axoneme assembly. Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Biased expression in lung (RPKM 5.7), testis (RPKM 4.4) and 10 other tissues See more
Orthologs
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Genomic context

See CFAP157 in Genome Data Viewer
Location:
9q34.11
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (127706988..127716002)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130469267..130478281)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene syntaxin binding protein 1 Neighboring gene VISTA enhancer hs2342 Neighboring gene microRNA 3911 Neighboring gene peptidyl-tRNA hydrolase 1 homolog Neighboring gene tetratricopeptide repeat domain 16 Neighboring gene Sharpr-MPRA regulatory region 4083 Neighboring gene torsin family 2 member A Neighboring gene SH2 domain containing 3C

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 Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in sperm axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sperm axoneme assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
cilia- and flagella-associated protein 157

NCBI Reference Sequences (RefSeq)

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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_001012502.3NP_001012520.2  cilia- and flagella-associated protein 157

    See identical proteins and their annotated locations for NP_001012520.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the protein-coding transcript.
    Source sequence(s)
    AL162426
    Consensus CDS
    CCDS43878.1
    UniProtKB/Swiss-Prot
    Q5JU67
    Related
    ENSP00000362392.1, ENST00000373295.7
    Conserved Domains (1) summary
    TIGR02168
    Location:45333
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RNA

  1. NR_145961.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL162426, BC141809, HY034408

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    127706988..127716002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518559.3XP_011516861.3  cilia- and flagella-associated protein 157 isoform X1

    Conserved Domains (1) summary
    cl25732
    Location:45333
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_006717064.4XP_006717127.3  cilia- and flagella-associated protein 157 isoform X2

    Related
    ENSP00000478313.1, ENST00000614677.1
    Conserved Domains (1) summary
    cl25732
    Location:45333
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_017014629.2XP_016870118.2  cilia- and flagella-associated protein 157 isoform X3

    Conserved Domains (1) summary
    cl25732
    Location:45323
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. XR_001746276.2 RNA Sequence

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