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SPNS1 sphingolipid transporter 1 (putative) [ Homo sapiens (human) ]

Gene ID: 83985, updated on 26-Nov-2021

Summary

Official Symbol
SPNS1provided by HGNC
Official Full Name
sphingolipid transporter 1 (putative)provided by HGNC
Primary source
HGNC:HGNC:30621
See related
Ensembl:ENSG00000169682 MIM:612583
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
LAT; nrs; SPIN1; SPINL; HSpin1; PP2030; SLC62A1; SLC63A1
Expression
Ubiquitous expression in lung (RPKM 11.3), placenta (RPKM 11.2) and 25 other tissues See more
Orthologs
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Genomic context

See SPNS1 in Genome Data Viewer
Location:
16p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (28973999..28984769)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28986099..28995864)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CD19 molecule Neighboring gene nuclear factor of activated T cells 2 interacting protein Neighboring gene microRNA 4517 Neighboring gene linker for activation of T cells Neighboring gene nuclear pore complex interacting protein family, member B10, pseudogene

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?

Phenotypes

Associated conditions

Description Tests
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38358

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in lipid transport IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lysosomal membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein spinster homolog 1
Names
SPNS sphingolipid transporter 1 (putative)
spinster homolog 1
spinster-like protein 1

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_001142448.2NP_001135920.1  protein spinster homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_001135920.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform 1.
    Source sequence(s)
    BC008325, BC065235, BG771918, CD368853
    Consensus CDS
    CCDS10646.1
    UniProtKB/Swiss-Prot
    Q9H2V7
    Related
    ENSP00000454360.1, ENST00000565975.5
    Conserved Domains (1) summary
    cd17328
    Location:62479
    MFS_spinster_like; Protein spinster and spinster homologs of the Major Facilitator Superfamily of transporters
  2. NM_001142449.2NP_001135921.1  protein spinster homolog 1 isoform 4

    See identical proteins and their annotated locations for NP_001135921.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL390215, BG771918, CD368853
    Consensus CDS
    CCDS45453.1
    UniProtKB/Swiss-Prot
    Q9H2V7
    Related
    ENSP00000306050.10, ENST00000352260.11
    Conserved Domains (2) summary
    cd06174
    Location:62376
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:79337
    MFS_1; Major Facilitator Superfamily
  3. NM_001142450.2NP_001135922.1  protein spinster homolog 1 isoform 2

    See identical proteins and their annotated locations for NP_001135922.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AL524908, BC008325, BG771918, CD368853
    Consensus CDS
    CCDS45454.1
    UniProtKB/Swiss-Prot
    Q9H2V7
    UniProtKB/TrEMBL
    A0A024QZ93
    Related
    ENSP00000318228.8, ENST00000323081.12
    Conserved Domains (1) summary
    cd06174
    Location:1377
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
  4. NM_001142451.2NP_001135923.1  protein spinster homolog 1 isoform 3

    See identical proteins and their annotated locations for NP_001135923.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC047741, BG771918
    Consensus CDS
    CCDS45452.1
    UniProtKB/Swiss-Prot
    Q9H2V7
    Related
    ENSP00000335494.8, ENST00000334536.12
    Conserved Domains (2) summary
    cd06174
    Location:62398
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:65359
    MFS_1; Major Facilitator Superfamily
  5. NM_032038.3NP_114427.1  protein spinster homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_114427.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 2 both encode isoform 1.
    Source sequence(s)
    BC008325, BG771918, CD368853
    Consensus CDS
    CCDS10646.1
    UniProtKB/Swiss-Prot
    Q9H2V7
    Related
    ENSP00000309945.11, ENST00000311008.16
    Conserved Domains (1) summary
    cd17328
    Location:62479
    MFS_spinster_like; Protein spinster and spinster homologs of the Major Facilitator Superfamily of transporters

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    28973999..28984769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450468.1XP_024306236.1  protein spinster homolog 1 isoform X6

    Conserved Domains (1) summary
    cd06174
    Location:1325
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
  2. XM_024450467.1XP_024306235.1  protein spinster homolog 1 isoform X5

    Conserved Domains (1) summary
    cd06174
    Location:1377
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
  3. XM_017023757.1XP_016879246.1  protein spinster homolog 1 isoform X1

    Related
    ENSP00000456119.1, ENST00000566059.5
  4. XM_006721096.4XP_006721159.1  protein spinster homolog 1 isoform X4

    Conserved Domains (2) summary
    cd06174
    Location:107472
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:110404
    MFS_1; Major Facilitator Superfamily
  5. XM_017023758.1XP_016879247.1  protein spinster homolog 1 isoform X2

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