Format

Send to:

Choose Destination

PITPNM3 PITPNM family member 3 [ Homo sapiens (human) ]

Gene ID: 83394, updated on 13-Mar-2020

Summary

Official Symbol
PITPNM3provided by HGNC
Official Full Name
PITPNM family member 3provided by HGNC
Primary source
HGNC:HGNC:21043
See related
Ensembl:ENSG00000091622 MIM:608921
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
NIR1; ACKR6; CORD5; RDGBA3
Summary
This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Expression
Biased expression in spleen (RPKM 27.1), ovary (RPKM 12.0) and 6 other tissues See more
Orthologs

Genomic context

See PITPNM3 in Genome Data Viewer
Location:
17p13.2-p13.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (6451263..6556555, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6354583..6459877, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985017 Neighboring gene aryl hydrocarbon receptor interacting protein like 1 Neighboring gene PICALM interacting mitotic regulator Neighboring gene KIAA0753 Neighboring gene RNA, 5S ribosomal pseudogene 435 Neighboring gene thioredoxin domain containing 17 Neighboring gene mediator complex subunit 31

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC157740, MGC157741

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
phospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor tyrosine kinase binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell body IEA
Inferred from Electronic Annotation
more info
 
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endomembrane system IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
membrane-associated phosphatidylinositol transfer protein 3
Names
NIR-1
PITPnm 3
PYK2 N-terminal domain-interacting receptor 1
atypical chemokine receptor 6
cone rod dystrophy 5
phosphatidylinositol transfer protein, membrane-associated 3
retinal degeneration B alpha 3

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.

Genomic

  1. NG_016020.1 RefSeqGene

    Range
    5003..110295
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001165966.2NP_001159438.1  membrane-associated phosphatidylinositol transfer protein 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC055872, AI333030, BC035799, BC128583
    Consensus CDS
    CCDS54080.1
    UniProtKB/TrEMBL
    A1A5C9
    Related
    ENSP00000407882.3, ENST00000421306.7
    Conserved Domains (2) summary
    smart00775
    Location:703833
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:357557
    DDHD; DDHD domain
  2. NM_031220.4NP_112497.2  membrane-associated phosphatidylinositol transfer protein 3 isoform 1

    See identical proteins and their annotated locations for NP_112497.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC055872, AF334586, AI333030, BC035799
    Consensus CDS
    CCDS11076.1
    UniProtKB/Swiss-Prot
    Q9BZ71
    Related
    ENSP00000262483.8, ENST00000262483.13
    Conserved Domains (2) summary
    smart00775
    Location:739869
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:393593
    DDHD; DDHD domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    6451263..6556555 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524015.3XP_011522317.1  membrane-associated phosphatidylinositol transfer protein 3 isoform X1

    Conserved Domains (2) summary
    pfam02862
    Location:393593
    DDHD; DDHD domain
    cl21460
    Location:739830
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. XM_011524016.3XP_011522318.1  membrane-associated phosphatidylinositol transfer protein 3 isoform X2

    Conserved Domains (2) summary
    pfam02862
    Location:393593
    DDHD; DDHD domain
    cl21460
    Location:739770
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  3. XM_011524017.3XP_011522319.1  membrane-associated phosphatidylinositol transfer protein 3 isoform X3

    Conserved Domains (1) summary
    pfam02862
    Location:393495
    DDHD; DDHD domain
Support Center