YIPF7 Yip1 domain family member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: YIPF7provided by HGNC
Official Full Name: Yip1 domain family member 7provided by HGNC
Primary source: HGNC:HGNC:26825
See related: Ensembl:ENSG00000177752 MIM:619754; AllianceGenome:HGNC:26825
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: Yip1b; FinGER9; YIPFalpha1b
Summary: Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport and vesicle fusion with Golgi apparatus. Predicted to act upstream of or within Golgi organization. Predicted to be located in cis-Golgi network and endoplasmic reticulum-Golgi intermediate compartment. Predicted to be active in trans-Golgi network. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 4p12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (44622088..44662199, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (44589027..44629123, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (44624105..44653642, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GWAS showed intestinal Behcet's disease-specific associations with an NAALADL2 rs3914501. Down-regulation of NAALADL2 expression was associated with exacerbating intestinal inflammatory responses both in vitro and in vivo.
Title: Identification of genetic susceptibility loci for intestinal Behçet's disease.

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)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:487293

SHGC-10616 (e-PCR)
- UniSTS:20689

SHGC-50721 (e-PCR)
- UniSTS:19951

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle fusion with Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cis-Golgi network	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IEA Inferred from Electronic Annotation more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein YIPF7

Names: YIP1 family member 7; five-pass transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum 9

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_001387382.1 → NP_001374311.1 protein YIPF7 isoform 2

Status: VALIDATED

Source sequence(s)

AC093852, AC096586
NM_182592.3 → NP_872398.3 protein YIPF7 isoform 1

Status: VALIDATED

Source sequence(s)

AC093852, AK096895, BC103996, DB299886

Consensus CDS

CCDS54766.2

UniProtKB/Swiss-Prot

J3KR00, Q3SY21, Q3SY22, Q8N8F6

Related

ENSP00000412696.4, ENST00000415895.9

Conserved Domains (1) summary

cl21557
Location:49 → 256

Yip1; Yip1 domain

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_000004.12 Reference GRCh38.p14 Primary Assembly

Range

44622088..44662199 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047450094.1 → XP_047306050.1 protein YIPF7 isoform X1
XM_011513679.3 → XP_011511981.1 protein YIPF7 isoform X2

Conserved Domains (1) summary

cl21557
Location:111 → 318

Yip1; Yip1 domain