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SNAP91 synaptosome associated protein 91 [ Homo sapiens (human) ]

Gene ID: 9892, updated on 2-Nov-2024

Summary

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Official Symbol
SNAP91provided by HGNC
Official Full Name
synaptosome associated protein 91provided by HGNC
Primary source
HGNC:HGNC:14986
See related
Ensembl:ENSG00000065609 MIM:607923; AllianceGenome:HGNC:14986
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
CALM; AP180
Summary
Predicted to enable several functions, including clathrin adaptor activity; clathrin heavy chain binding activity; and phosphatidylinositol binding activity. Acts upstream of or within regulation of clathrin-dependent endocytosis. Predicted to be located in several cellular components, including postsynaptic density; presynaptic endosome; and presynaptic membrane. Predicted to be extrinsic component of endosome membrane. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; cytoplasmic vesicle; and parallel fiber to Purkinje cell synapse. Predicted to be extrinsic component of presynaptic endocytic zone membrane. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in brain (RPKM 42.7), testis (RPKM 6.2) and 1 other tissue See more
Orthologs
mouse all
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Genomic context

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See SNAP91 in Genome Data Viewer
Location:
6q14.2
Exon count:
42
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (83552885..83709393, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (84776120..84932636, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (84262604..84419112, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5928 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr6:84004031-84004257 Neighboring gene malic enzyme 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17358 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:84140986-84142185 Neighboring gene serine protease 35 Neighboring gene Sharpr-MPRA regulatory region 13924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17360 Neighboring gene uncharacterized LOC105377879 Neighboring gene RIPPLY2-CYB5R4 readthrough Neighboring gene MPRA-validated peak5930 silencer Neighboring gene ripply transcriptional repressor 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Changes in synaptic expression of clathrin assembly protein AP180 in Alzheimer's disease analysed by immunohistochemistry. Yao PJ, et al. Neuroscience, 1999. PMID 10579202
  2. Clathrin assembly protein AP-3 is phosphorylated and glycosylated on the 50-kDa structural domain. Murphy JE, et al. J Biol Chem, 1994 Aug 19. PMID 8063760
  3. Immunohistochemical characterization of clathrin assembly protein AP180 and synaptophysin in human brain. Yao PJ, et al. Neurobiol Aging, 2003 Jan-Feb. PMID 12493563
  4. Turning CALM into excitement: AP180 and CALM in endocytosis and disease. Maritzen T, et al. Biol Cell, 2012 Oct. PMID 22639918
  5. Intrinsically disordered proteins drive membrane curvature. Busch DJ, et al. Nat Commun, 2015 Jul 24. PMID 26204806, Free PMC Article

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Study concludes that the novel clathrin interaction sites identified here in CALM and AP180 have a major role in how these proteins interface with clathrin. This work advances the case that AP180 and CALM are required to use a combination of standard clathrin N-terminal domain binding motifs and the sequence identified here for optimal binding and assembling clathrin.
    Title: A Novel Sequence in AP180 and CALM Promotes Efficient Clathrin Binding and Assembly.
  2. intrinsically disordered domains are highly potent drivers of membrane curvature
    Title: Intrinsically disordered proteins drive membrane curvature.
  3. To sustain efficient neurotransmission and synaptic vesicle formation, AP180 and VAMP2 are required.
    Title: Vesicular Synaptobrevin/VAMP2 Levels Guarded by AP180 Control Efficient Neurotransmission.
  4. AP180 and CALM are endocytic adaptors dedicated to the sorting of small soluble N-ethylmaleimide-sensitive-factor attachment protein receptors. (Review)
    Title: Turning CALM into excitement: AP180 and CALM in endocytosis and disease.
  5. unique mechanism of SNARE motif-dependent endocytic sorting and identify the ANTH domain proteins AP180 and CALM as cargo-specific adaptors for synaptobrevin endocytosis
    Title: SNARE motif-mediated sorting of synaptobrevin by the endocytic adaptors clathrin assembly lymphoid myeloid leukemia (CALM) and AP180 at synapses.
  6. AP180 is significantly decreased in the hippocampus of Alzheimer's disease patients and in hippocampal neurons of transgenic mice.
    Title: Changed clathrin regulatory proteins in the brains of Alzheimer's disease patients and animal models.
  7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  8. RNA interference-mediated knockdown of AP180 reduces the generation of Abeta1-40 and Abeta1-42, whereas CALM knockdown has no effect on Abeta generation.
    Title: The clathrin assembly protein AP180 regulates the generation of amyloid-beta peptide.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Novel cleft susceptibility genes in chromosome 6q.
  10. AP180 had an overall expression similar to synaptophysin, the immunoreactivity for the two proteins did not always co-localize.
    Title: Immunohistochemical characterization of clathrin assembly protein AP180 and synaptophysin in human brain.
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

EBI GWAS Catalog

Description
Genome-wide association of mood-incongruent psychotic bipolar disorder.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpu vpu The C-terminal fragment of the clathrin assembly protein AP180 inhibits the downregulation of BST-2 from the cell surface by HIV-1 Vpu and HIV-2 Env PubMed
capsid gag AP180 depletion by shRNA results in inhibition of the HIV-1 CA uptake by target cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0656, DKFZp781O0519

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables clathrin heavy chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in clathrin coat assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in clathrin-dependent endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of clathrin-dependent endocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in synaptic vesicle budding from presynaptic endocytic zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in clathrin-coated pit IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in clathrin-coated vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in extrinsic component of presynaptic endocytic zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
clathrin coat assembly protein AP180
Names
91 kDa synaptosomal-associated protein
assembly protein, 180kDa
clathrin coat-associated protein AP180
phosphoprotein F1-20
synaptosomal-associated protein, 91kDa homolog
synaptosome associated protein 91kDa

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_001242792.2 → NP_001229721.1  clathrin coat assembly protein AP180 isoform a

    See identical proteins and their annotated locations for NP_001229721.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 both encode the same isoform (a).
    Source sequence(s)
    AB014556, AK289582, AL109915, BC044579
    Consensus CDS
    CCDS47455.1
    UniProtKB/Swiss-Prot
    A8K0L7, E5RI02, O60641, Q5JX13, Q68DL9, Q6P9D3, Q9NTY7
    Related
    ENSP00000358708.2, ENST00000369694.7
    Conserved Domains (2) summary
    pfam07651
    Location:21 → 284
    ANTH; ANTH domain
    cl26464
    Location:595 → 897
    Atrophin-1; Atrophin-1 family

  2. NM_001242793.2 → NP_001229722.1  clathrin coat assembly protein AP180 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an internal segment in the 5' UTR and two in-frame exons in the CDS, compared to variant 1. The resulting isoform (b) lacks two internal segments, compared to isoform a. Variants 4 and 42-45 all encode the same isoform (b).
    Source sequence(s)
    AL109915
    Consensus CDS
    CCDS56438.1
    UniProtKB/Swiss-Prot
    O60641
    Related
    ENSP00000428511.1, ENST00000520302.5
    Conserved Domains (2) summary
    PHA03247
    Location:697 → 867
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  3. NM_001242794.2 → NP_001229723.1  clathrin coat assembly protein AP180 isoform c

    See identical proteins and their annotated locations for NP_001229723.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an internal segment in the 5' UTR and multiple exons in the CDS, compared to variant 1. The resulting isoform (c) lacks three internal segments, compared to isoform a.
    Source sequence(s)
    AL109915
    Consensus CDS
    CCDS56437.1
    UniProtKB/Swiss-Prot
    O60641
    Related
    ENSP00000428026.1, ENST00000520213.5
    Conserved Domains (2) summary
    pfam07651
    Location:21 → 270
    ANTH; ANTH domain
    cl26464
    Location:282 → 590
    Atrophin-1; Atrophin-1 family

  4. NM_001256717.2 → NP_001243646.1  clathrin coat assembly protein AP180 isoform d

    See identical proteins and their annotated locations for NP_001243646.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AL109915
    UniProtKB/Swiss-Prot
    O60641
    Conserved Domains (1) summary
    pfam07651
    Location:10 → 249
    ANTH; ANTH domain

  5. NM_001256718.2 → NP_001243647.1  clathrin coat assembly protein AP180 isoform e

    See identical proteins and their annotated locations for NP_001243647.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, contains multiple differences in the coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (e) is shorter than isoform a.
    Source sequence(s)
    AK294898, AL109915, BC036650, BC044579, CR749348, DA307867
    UniProtKB/TrEMBL
    B7Z2C2, B7Z2N2
    Conserved Domains (1) summary
    cl02544
    Location:1 → 165
    VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...

  6. NM_001363677.2 → NP_001350606.1  clathrin coat assembly protein AP180 isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (f) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AL109915
    Consensus CDS
    CCDS87418.1
    UniProtKB/TrEMBL
    E9PDG8
    Related
    ENSP00000195649.6, ENST00000195649.10
    Conserved Domains (2) summary
    pfam07651
    Location:21 → 284
    ANTH; ANTH domain
    cl26464
    Location:671 → 892
    Atrophin-1; Atrophin-1 family

  7. NM_001376675.1 → NP_001363604.1  clathrin coat assembly protein AP180 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variants 10-16, encodes isoform g.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:593 → 895
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  8. NM_001376676.1 → NP_001363605.1  clathrin coat assembly protein AP180 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10), as well as variants 9 and 11-16, encodes isoform g.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:593 → 895
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  9. NM_001376677.1 → NP_001363606.1  clathrin coat assembly protein AP180 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11), as well as variants 9, 10, and 12-16, encodes isoform g.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:593 → 895
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  10. NM_001376678.1 → NP_001363607.1  clathrin coat assembly protein AP180 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12), as well as variants 9-11 and 13-16, encodes isoform g.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:593 → 895
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  11. NM_001376679.1 → NP_001363608.1  clathrin coat assembly protein AP180 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13), as well as variants 9-12 and 14-16, encodes isoform g.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:593 → 895
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  12. NM_001376680.1 → NP_001363609.1  clathrin coat assembly protein AP180 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14), as well as variants 9-13, 15, and 16, encodes isoform g.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:593 → 895
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  13. NM_001376681.1 → NP_001363610.1  clathrin coat assembly protein AP180 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15), as well as variants 9-14 and 16, encodes isoform g.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:593 → 895
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  14. NM_001376682.1 → NP_001363611.1  clathrin coat assembly protein AP180 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (16), as well as variants 9-15, encodes isoform g.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:593 → 895
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  15. NM_001376683.1 → NP_001363612.1  clathrin coat assembly protein AP180 isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (17), as well as variant 18, encodes isoform h.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:592 → 894
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  16. NM_001376684.1 → NP_001363613.1  clathrin coat assembly protein AP180 isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (18), as well as variant 17, encodes isoform h.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:592 → 894
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  17. NM_001376685.1 → NP_001363614.1  clathrin coat assembly protein AP180 isoform i

    Status: VALIDATED

    Description
    Transcript Variant: This variant (20), as well as variants 21-26, encodes isoform i.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:669 → 890
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  18. NM_001376686.1 → NP_001363615.1  clathrin coat assembly protein AP180 isoform i

    Status: VALIDATED

    Description
    Transcript Variant: This variant (21), as well as variants 20 and 22-26, encodes isoform i.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:669 → 890
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  19. NM_001376687.1 → NP_001363616.1  clathrin coat assembly protein AP180 isoform gg

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:588 → 890
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  20. NM_001376688.1 → NP_001363617.1  clathrin coat assembly protein AP180 isoform i

    Status: VALIDATED

    Description
    Transcript Variant: This variant (22), as well as variants 20, 21, and 23-26, encodes isoform i.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:669 → 890
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  21. NM_001376689.1 → NP_001363618.1  clathrin coat assembly protein AP180 isoform i

    Status: VALIDATED

    Description
    Transcript Variant: This variant (23), as well as variants 20-22 and 24-26, encodes isoform i.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:669 → 890
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  22. NM_001376690.1 → NP_001363619.1  clathrin coat assembly protein AP180 isoform i

    Status: VALIDATED

    Description
    Transcript Variant: This variant (24), as well as variants 20-23, 25, and 26, encodes isoform i.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:669 → 890
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  23. NM_001376691.1 → NP_001363620.1  clathrin coat assembly protein AP180 isoform i

    Status: VALIDATED

    Description
    Transcript Variant: This variant (25), as well as variants 20-24 and 26, encodes isoform i.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:669 → 890
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  24. NM_001376692.1 → NP_001363621.1  clathrin coat assembly protein AP180 isoform i

    Status: VALIDATED

    Description
    Transcript Variant: This variant (26), as well as variants 20-25, encodes isoform i.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:669 → 890
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  25. NM_001376693.1 → NP_001363622.1  clathrin coat assembly protein AP180 isoform j

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:586 → 888
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  26. NM_001376694.1 → NP_001363623.1  clathrin coat assembly protein AP180 isoform k

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:717 → 887
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  27. NM_001376695.1 → NP_001363624.1  clathrin coat assembly protein AP180 isoform l

    Status: VALIDATED

    Description
    Transcript Variant: This variant (29), as well as variants 30-32, encodes isoform l.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:579 → 881
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 269
    ANTH; ANTH domain

  28. NM_001376696.1 → NP_001363625.1  clathrin coat assembly protein AP180 isoform l

    Status: VALIDATED

    Description
    Transcript Variant: This variant (30), as well as variants 29, 31, and 32, encodes isoform l.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:579 → 881
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 269
    ANTH; ANTH domain

  29. NM_001376697.1 → NP_001363626.1  clathrin coat assembly protein AP180 isoform l

    Status: VALIDATED

    Description
    Transcript Variant: This variant (31), as well as variants 29, 30, and 32, encodes isoform l.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:579 → 881
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 269
    ANTH; ANTH domain

  30. NM_001376698.1 → NP_001363627.1  clathrin coat assembly protein AP180 isoform l

    Status: VALIDATED

    Description
    Transcript Variant: This variant (32), as well as variants 29-31, encodes isoform l.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:579 → 881
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 269
    ANTH; ANTH domain

  31. NM_001376699.1 → NP_001363628.1  clathrin coat assembly protein AP180 isoform m

    Status: VALIDATED

    Description
    Transcript Variant: This variant (33), as well as variant 34, encodes isoform m.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:669 → 880
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  32. NM_001376700.1 → NP_001363629.1  clathrin coat assembly protein AP180 isoform m

    Status: VALIDATED

    Description
    Transcript Variant: This variant (34), as well as variant 33, encodes isoform m.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:669 → 880
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  33. NM_001376701.1 → NP_001363630.1  clathrin coat assembly protein AP180 isoform n

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:655 → 876
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 269
    ANTH; ANTH domain

  34. NM_001376702.1 → NP_001363631.1  clathrin coat assembly protein AP180 isoform o

    Status: VALIDATED

    Description
    Transcript Variant: This variant (36), as well as variants 37-41, encodes isoform o.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:567 → 869
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  35. NM_001376703.1 → NP_001363632.1  clathrin coat assembly protein AP180 isoform o

    Status: VALIDATED

    Description
    Transcript Variant: This variant (37), as well as variants 36 and 38-41, encodes isoform o.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:567 → 869
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  36. NM_001376704.1 → NP_001363633.1  clathrin coat assembly protein AP180 isoform o

    Status: VALIDATED

    Description
    Transcript Variant: This variant (38), as well as variants 36, 37, and 39-41, encodes isoform o.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:567 → 869
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  37. NM_001376705.1 → NP_001363634.1  clathrin coat assembly protein AP180 isoform o

    Status: VALIDATED

    Description
    Transcript Variant: This variant (39), as well as variants 36-38, 40, and 41, encodes isoform o.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:567 → 869
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  38. NM_001376706.1 → NP_001363635.1  clathrin coat assembly protein AP180 isoform o

    Status: VALIDATED

    Description
    Transcript Variant: This variant (40), as well as variants 36-39 and 41, encodes isoform o.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:567 → 869
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  39. NM_001376707.1 → NP_001363636.1  clathrin coat assembly protein AP180 isoform o

    Status: VALIDATED

    Description
    Transcript Variant: This variant (41), as well as variants 36-40, encodes isoform o.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:567 → 869
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  40. NM_001376708.1 → NP_001363637.1  clathrin coat assembly protein AP180 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (42), as well as variants 4 and 43-45, encodes isoform b.
    Source sequence(s)
    AL109915
    Consensus CDS
    CCDS56438.1
    Conserved Domains (2) summary
    PHA03247
    Location:697 → 867
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  41. NM_001376709.1 → NP_001363638.1  clathrin coat assembly protein AP180 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (43), as well as variants 4, 42, 44, and 45, encodes isoform b.
    Source sequence(s)
    AL109915
    Consensus CDS
    CCDS56438.1
    Conserved Domains (2) summary
    PHA03247
    Location:697 → 867
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  42. NM_001376710.1 → NP_001363639.1  clathrin coat assembly protein AP180 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (44), as well as variants 4, 42, 43, and 45, encodes isoform b.
    Source sequence(s)
    AL109915
    Consensus CDS
    CCDS56438.1
    Conserved Domains (2) summary
    PHA03247
    Location:697 → 867
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  43. NM_001376711.1 → NP_001363640.1  clathrin coat assembly protein AP180 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (45), as well as variants 4 and 42-44, encodes isoform b.
    Source sequence(s)
    AL109915
    Consensus CDS
    CCDS56438.1
    Conserved Domains (2) summary
    PHA03247
    Location:697 → 867
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  44. NM_001376712.1 → NP_001363641.1  clathrin coat assembly protein AP180 isoform hh

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:588 → 872
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  45. NM_001376713.1 → NP_001363642.1  clathrin coat assembly protein AP180 isoform p

    Status: VALIDATED

    Description
    Transcript Variant: This variant (47), as well as variant 48, encodes isoform p.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:643 → 864
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  46. NM_001376714.1 → NP_001363643.1  clathrin coat assembly protein AP180 isoform p

    Status: VALIDATED

    Description
    Transcript Variant: This variant (48), as well as variant 47, encodes isoform p.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:643 → 864
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  47. NM_001376715.1 → NP_001363644.1  clathrin coat assembly protein AP180 isoform q

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:638 → 859
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:15 → 252
    ANTH; ANTH domain

  48. NM_001376716.1 → NP_001363645.1  clathrin coat assembly protein AP180 isoform r

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:553 → 855
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 269
    ANTH; ANTH domain

  49. NM_001376717.1 → NP_001363646.1  clathrin coat assembly protein AP180 isoform s

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:629 → 850
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 269
    ANTH; ANTH domain

  50. NM_001376718.1 → NP_001363647.1  clathrin coat assembly protein AP180 isoform t

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:675 → 845
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  51. NM_001376719.1 → NP_001363648.1  clathrin coat assembly protein AP180 isoform u

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:671 → 841
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  52. NM_001376720.1 → NP_001363649.1  clathrin coat assembly protein AP180 isoform v

    Status: VALIDATED

    Description
    Transcript Variant: This variant (54), as well as variants 55-58, encodes isoform v.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:667 → 837
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:1 → 224
    ANTH; ANTH domain

  53. NM_001376721.1 → NP_001363650.1  clathrin coat assembly protein AP180 isoform v

    Status: VALIDATED

    Description
    Transcript Variant: This variant (55), as well as variants 54 and 56-58, encodes isoform v.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:667 → 837
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:1 → 224
    ANTH; ANTH domain

  54. NM_001376723.1 → NP_001363652.1  clathrin coat assembly protein AP180 isoform v

    Status: VALIDATED

    Description
    Transcript Variant: This variant (56), as well as variants 54, 55, 57, and 58, encodes isoform v.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:667 → 837
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:1 → 224
    ANTH; ANTH domain

  55. NM_001376726.1 → NP_001363655.1  clathrin coat assembly protein AP180 isoform v

    Status: VALIDATED

    Description
    Transcript Variant: This variant (57), as well as variants 54-56 and 58, encodes isoform v.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:667 → 837
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:1 → 224
    ANTH; ANTH domain

  56. NM_001376728.1 → NP_001363657.1  clathrin coat assembly protein AP180 isoform v

    Status: VALIDATED

    Description
    Transcript Variant: This variant (58), as well as variants 54-57, encodes isoform v.
    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:667 → 837
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:1 → 224
    ANTH; ANTH domain

  57. NM_001376731.1 → NP_001363660.1  clathrin coat assembly protein AP180 isoform w

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:615 → 836
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  58. NM_001376733.1 → NP_001363662.1  clathrin coat assembly protein AP180 isoform x

    Status: VALIDATED

    Description
    Transcript Variant: This variant (60), as well as variant 61, encodes isoform x.
    Source sequence(s)
    AL109915
    Conserved Domains (3) summary
    PHA03247
    Location:562 → 830
    PHA03247; large tegument protein UL36; Provisional
    PRK12323
    Location:734 → 836
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  59. NM_001376734.1 → NP_001363663.1  clathrin coat assembly protein AP180 isoform x

    Status: VALIDATED

    Description
    Transcript Variant: This variant (61), as well as variant 60, encodes isoform x.
    Source sequence(s)
    AL109915
    Conserved Domains (3) summary
    PHA03247
    Location:562 → 830
    PHA03247; large tegument protein UL36; Provisional
    PRK12323
    Location:734 → 836
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  60. NM_001376735.1 → NP_001363664.1  clathrin coat assembly protein AP180 isoform y

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:611 → 832
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:1 → 225
    ANTH; ANTH domain

  61. NM_001376736.1 → NP_001363665.1  clathrin coat assembly protein AP180 isoform z

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:657 → 827
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 269
    ANTH; ANTH domain

  62. NM_001376737.1 → NP_001363666.1  clathrin coat assembly protein AP180 isoform aa

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:588 → 816
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  63. NM_001376738.1 → NP_001363667.1  clathrin coat assembly protein AP180 isoform bb

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:490 → 660
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  64. NM_001376739.1 → NP_001363668.1  clathrin coat assembly protein AP180 isoform cc

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (2) summary
    PHA03247
    Location:476 → 646
    PHA03247; large tegument protein UL36; Provisional
    pfam07651
    Location:24 → 269
    ANTH; ANTH domain

  65. NM_001376740.1 → NP_001363669.1  clathrin coat assembly protein AP180 isoform dd

    Status: VALIDATED

    Source sequence(s)
    AL109915
    UniProtKB/TrEMBL
    E5RGY9
    Conserved Domains (1) summary
    pfam07651
    Location:21 → 282
    ANTH; ANTH domain

  66. NM_001376741.1 → NP_001363670.1  clathrin coat assembly protein AP180 isoform ee

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (1) summary
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  67. NM_001376742.1 → NP_001363671.1  clathrin coat assembly protein AP180 isoform ff

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Conserved Domains (1) summary
    pfam07651
    Location:24 → 283
    ANTH; ANTH domain

  68. NM_014841.3 → NP_055656.1  clathrin coat assembly protein AP180 isoform a

    See identical proteins and their annotated locations for NP_055656.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 3 both encode the same isoform (a).
    Source sequence(s)
    AL109915
    Consensus CDS
    CCDS47455.1
    UniProtKB/Swiss-Prot
    A8K0L7, E5RI02, O60641, Q5JX13, Q68DL9, Q6P9D3, Q9NTY7
    Related
    ENSP00000400459.2, ENST00000439399.6
    Conserved Domains (2) summary
    pfam07651
    Location:21 → 284
    ANTH; ANTH domain
    cl26464
    Location:595 → 897
    Atrophin-1; Atrophin-1 family

RNA

  1. NR_164843.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL109915

  2. NR_164844.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL109915

  3. NR_164845.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL109915

  4. NR_164846.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL109915
    Related
    ENST00000518312.5

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

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    83552885..83709393 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    84776120..84932636 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_026669.1: Suppressed sequence

    Description
    NR_026669.1: This RefSeq was permanently suppressed because it is now thought that this transcript does encode a protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60641.2 GenPept UniProtKB/Swiss-Prot:O60641

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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