MAP6D1 MAP6 domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAP6D1provided by HGNC
Official Full Name: MAP6 domain containing 1provided by HGNC
Primary source: HGNC:HGNC:25753
See related: Ensembl:ENSG00000180834 MIM:610593; AllianceGenome:HGNC:25753
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: SL21; MAPO6D1
Summary: This gene encodes a protein highly similar to the mouse MAP6 domain containing 1 protein, which is related to the STOP proteins. Based on the study of the mouse protein, the encoded protein may function as a calmodulin-regulated neuronal protein that binds and stabilizes microtubules but also associates with the Golgi membranes through N-terminal palmitoylation. [provided by RefSeq, Oct 2008]
Expression: Biased expression in brain (RPKM 16.9), skin (RPKM 1.5) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (183815922..183825577, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (186625430..186635070, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (183533710..183543365, complement)

Chromosome 3 - NC_000003.12 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: 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?

This paper describes the conserved domains, localization and function of the mouse MAP6D1 protein. It also compared the sequences of the related proteins in mouse, human and other species.
Title: STOP-like protein 21 is a novel member of the STOP family, revealing a Golgi localization of STOP proteins.

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

RH78134 (e-PCR)
- UniSTS:48745

SHGC-77592 (e-PCR)
- UniSTS:37801

SHGC-155660 (e-PCR)
- UniSTS:183755

SHGC-155661 (e-PCR)
- UniSTS:183756

STS-AA022862 (e-PCR)
- UniSTS:28914

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in cytoskeleton-dependent intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of microtubule depolymerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi-associated vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cis-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: MAP6 domain-containing protein 1

Names: 21 kDa STOP-like protein; STOP-Like protein 21 kD

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.