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

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, Dec 2024]
Expression: Biased expression in lung (RPKM 5.7), testis (RPKM 4.4) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (127706988..127716002)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (139913943..139922957)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (130469267..130478281)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92521 (e-PCR)
- UniSTS:84831

SGC30286 (e-PCR)
- UniSTS:66303

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
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
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
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

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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)

NM_001012502.3 → NP_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

A5D8T9, Q5JU67

Related

ENSP00000362392.1, ENST00000373295.7

Conserved Domains (1) summary

TIGR02168
Location:45 → 333

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RNA

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

127706988..127716002

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

cl25732
Location:45 → 333

SMC_N; RecF/RecN/SMC N terminal domain
XM_006717064.5 → XP_006717127.3 cilia- and flagella-associated protein 157 isoform X2

Related

ENSP00000478313.1, ENST00000614677.1

Conserved Domains (1) summary

cl25732
Location:45 → 333

SMC_N; RecF/RecN/SMC N terminal domain
XM_017014629.3 → XP_016870118.2 cilia- and flagella-associated protein 157 isoform X3

Conserved Domains (1) summary

cl25732
Location:45 → 323

SMC_N; RecF/RecN/SMC N terminal domain

RNA

XR_001746276.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

139913943..139922957

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054362768.1 → XP_054218743.1 cilia- and flagella-associated protein 157 isoform X1
XM_054362769.1 → XP_054218744.1 cilia- and flagella-associated protein 157 isoform X2
XM_054362770.1 → XP_054218745.1 cilia- and flagella-associated protein 157 isoform X3