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IFT57 intraflagellar transport 57 [ Homo sapiens (human) ]

Gene ID: 55081, updated on 7-Aug-2022

Summary

Official Symbol
IFT57provided by HGNC
Official Full Name
intraflagellar transport 57provided by HGNC
Primary source
HGNC:HGNC:17367
See related
Ensembl:ENSG00000114446 MIM:606621; AllianceGenome:HGNC:17367
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
HIPPI; OFD18; MHS4R2; ESRRBL1
Summary
Predicted to enable DNA binding activity. Acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; and regulation of apoptotic process. Predicted to be located in ciliary basal body. Predicted to be part of axoneme and intraciliary transport particle B. Predicted to be active in Golgi apparatus; centrosome; and cilium. Implicated in orofaciodigital syndrome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 34.1), lung (RPKM 27.3) and 24 other tissues See more
Orthologs
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Genomic context

See IFT57 in Genome Data Viewer
Location:
3q13.12-q13.13
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (108160812..108222424, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (110880592..110942211, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (107879659..107941271, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374031 Neighboring gene CRISPRi-validated cis-regulatory element chr3.3177 Neighboring gene long intergenic non-protein coding RNA 1215 Neighboring gene uncharacterized LOC124909405 Neighboring gene HERV-H LTR-associating 2 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 17

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10147

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in axoneme IEA
Inferred from Electronic Annotation
more info
 
is_active_in centrosome 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 ciliary base IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary tip TAS
Traceable Author Statement
more info
 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cilium IC
Inferred by Curator
more info
PubMed 
located_in cilium TAS
Traceable Author Statement
more info
 
located_in dendrite terminus IEA
Inferred from Electronic Annotation
more info
 
part_of intraciliary transport particle B IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of intraciliary transport particle B IPI
Inferred from Physical Interaction
more info
PubMed 
part_of intraciliary transport particle B ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
intraflagellar transport protein 57 homolog
Names
HIP1 protein interactor
HIP1-interacting protein
dermal papilla-derived protein 8
estrogen-related receptor beta like 1
estrogen-related receptor beta-like protein 1
huntingtin interacting protein-1 interacting protein
intraflagellar transport 57 homolog

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_018010.4NP_060480.1  intraflagellar transport protein 57 homolog

    See identical proteins and their annotated locations for NP_060480.1

    Status: VALIDATED

    Source sequence(s)
    AC012020, AF139576, BC011899, DA362330
    Consensus CDS
    CCDS2951.1
    UniProtKB/Swiss-Prot
    Q96DA9, Q9NWB7
    Related
    ENSP00000264538.3, ENST00000264538.4
    Conserved Domains (1) summary
    pfam10498
    Location:45401
    IFT57; Intra-flagellar transport protein 57

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    108160812..108222424 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    110880592..110942211 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)