SLC35G6 solute carrier family 35 member G6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC35G6provided by HGNC
Official Full Name: solute carrier family 35 member G6provided by HGNC
Primary source: HGNC:HGNC:31351
See related: Ensembl:ENSG00000259224 AllianceGenome:HGNC:31351
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: AMAC1L3; TMEM21B
Summary: Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 1.7) See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (7481446..7483496)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (7385492..7387542)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7384765..7386815)

Chromosome 17 - NC_000017.11 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 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.

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:481376

NoName (e-PCR)
- UniSTS:482147

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: solute carrier family 35 member G6

Names: acyl-malonyl condensing enzyme 1-like 3; acyl-malonyl-condensing enzyme 1-like protein 3; protein AMAC1L3; transmembrane protein 21B

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_001102614.2 → NP_001096084.1 solute carrier family 35 member G6

See identical proteins and their annotated locations for NP_001096084.1

Status: VALIDATED

Source sequence(s)

AC113189

Consensus CDS

CCDS45603.1

UniProtKB/Swiss-Prot

P0C7Q6

Related

ENSP00000396523.2, ENST00000412468.4

Conserved Domains (2) summary

TIGR00950
Location:62 → 319

2A78; Carboxylate/Amino Acid/Amine Transporter

pfam00892
Location:221 → 324

EamA; EamA-like transporter family