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ATXN7L1 ataxin 7 like 1 [ Homo sapiens (human) ]

Gene ID: 222255, updated on 8-May-2016
Official Symbol
ATXN7L1provided by HGNC
Official Full Name
ataxin 7 like 1provided by HGNC
Primary source
HGNC:HGNC:22210
See related
Ensembl:ENSG00000146776 HPRD:12508; Vega:OTTHUMG00000157521
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
ATXN7L4
Orthologs
Location:
7q22.3
Exon count:
23
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (105604774..105877232, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (105244932..105517046, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RAD50 interactor 1 Neighboring gene EF-hand calcium binding domain 10 Neighboring gene Y-box binding protein 1 pseudogene 2 Neighboring gene uncharacterized LOC105375437 Neighboring gene ribosomal protein L13a pseudogene 16 Neighboring gene cadherin related family member 3 Neighboring gene synaptophysin like 1 Neighboring gene DDB1 and CUL4 associated factor 13 pseudogene 1

NHGRI GWAS Catalog

Description
Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
NHGRI GWA Catalog
GWAS of dental caries patterns in the permanent dentition.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ40255, FLJ58242, KIAA1218, MGC10760, MGC33190

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Preferred Names
ataxin-7-like protein 1
Names
ataxin 7-like 1
ataxin 7-like 4
ataxin-7-like protein 4

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_001318229.1NP_001305158.1  ataxin-7-like protein 1 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region and UTRs compared to variant 1. These differences result in the use of a downstream in-frame start codon and a distinct 3' coding region. The encoded isoform (4) has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC003517, BC055009, BQ227169, BQ436521
    UniProtKB/TrEMBL
    Q9BTQ8
    Conserved Domains (1) summary
    pfam08313
    Location:65131
    SCA7; SCA7, zinc-binding domain
  2. NM_020725.1NP_065776.1  ataxin-7-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_065776.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB033044, AC073073, BQ431139
    Consensus CDS
    CCDS47682.1
    UniProtKB/Swiss-Prot
    Q9ULK2
    Related
    ENSP00000410759, OTTHUMP00000212244, ENST00000419735, OTTHUMT00000349037
    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  3. NM_138495.1NP_612504.1  ataxin-7-like protein 1 isoform 3

    See identical proteins and their annotated locations for NP_612504.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream in-frame ATG and an isoform (3) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC073073, AK300338
    Consensus CDS
    CCDS47683.1
    UniProtKB/Swiss-Prot
    Q9ULK2
    Related
    ENSP00000418476, OTTHUMP00000212247, ENST00000477775, OTTHUMT00000349043
    Conserved Domains (1) summary
    pfam08313
    Location:157223
    SCA7; SCA7, zinc-binding domain
  4. NM_152749.3NP_689962.1  ataxin-7-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_689962.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon at its 3' coding region and 3' UTR and lacks all other 3' exons, compared to variant 1. This results in an isoform (2) with a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC030616, BP339600, BQ431139
    Consensus CDS
    CCDS34727.1
    UniProtKB/Swiss-Prot
    Q9ULK2
    Related
    ENSP00000326344, OTTHUMP00000212243, ENST00000318724, OTTHUMT00000349036

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    105604774..105877232 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515940.1XP_011514242.1  

    See identical proteins and their annotated locations for XP_011514242.1

    UniProtKB/Swiss-Prot
    Q9ULK2
    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  2. XM_005250220.3XP_005250277.1  

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  3. XM_011515939.1XP_011514241.1  

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  4. XM_006715902.2XP_006715965.1  

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  5. XM_011515935.1XP_011514237.1  

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  6. XM_006715901.2XP_006715964.1  

    See identical proteins and their annotated locations for XP_006715964.1

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  7. XM_011515953.1XP_011514255.1  

    See identical proteins and their annotated locations for XP_011514255.1

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  8. XM_011515937.1XP_011514239.1  

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  9. XM_006715900.2XP_006715963.1  

    See identical proteins and their annotated locations for XP_006715963.1

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  10. XM_011515946.1XP_011514248.1  

    See identical proteins and their annotated locations for XP_011514248.1

    Conserved Domains (1) summary
    pfam08313
    Location:646
    SCA7; SCA7, zinc-binding domain
  11. XM_011515944.1XP_011514246.1  

    See identical proteins and their annotated locations for XP_011514246.1

    Conserved Domains (1) summary
    pfam08313
    Location:157223
    SCA7; SCA7, zinc-binding domain
  12. XM_011515942.1XP_011514244.1  

    See identical proteins and their annotated locations for XP_011514244.1

    Related
    ENSP00000419566, OTTHUMP00000212249, ENST00000472195, OTTHUMT00000349047
    Conserved Domains (1) summary
    pfam08313
    Location:157223
    SCA7; SCA7, zinc-binding domain
  13. XM_006715904.2XP_006715967.1  

    See identical proteins and their annotated locations for XP_006715967.1

    Conserved Domains (1) summary
    pfam08313
    Location:646
    SCA7; SCA7, zinc-binding domain
  14. XM_011515943.1XP_011514245.1  

    See identical proteins and their annotated locations for XP_011514245.1

    Conserved Domains (1) summary
    pfam08313
    Location:157223
    SCA7; SCA7, zinc-binding domain
  15. XM_011515941.1XP_011514243.1  

    See identical proteins and their annotated locations for XP_011514243.1

    Conserved Domains (1) summary
    pfam08313
    Location:157223
    SCA7; SCA7, zinc-binding domain
  16. XM_011515936.1XP_011514238.1  

    Conserved Domains (1) summary
    pfam08313
    Location:215281
    SCA7; SCA7, zinc-binding domain
  17. XM_011515947.1XP_011514249.1  

    See identical proteins and their annotated locations for XP_011514249.1

    Conserved Domains (1) summary
    pfam08313
    Location:646
    SCA7; SCA7, zinc-binding domain
  18. XM_005250221.1XP_005250278.1  

    Conserved Domains (1) summary
    pfam08313
    Location:65131
    SCA7; SCA7, zinc-binding domain
  19. XM_011515945.1XP_011514247.1  

    See identical proteins and their annotated locations for XP_011514247.1

    UniProtKB/TrEMBL
    A4D0Q3
    Conserved Domains (1) summary
    pfam08313
    Location:65131
    SCA7; SCA7, zinc-binding domain
  20. XM_011515938.1XP_011514240.1  

    Conserved Domains (1) summary
    pfam08313
    Location:178244
    SCA7; SCA7, zinc-binding domain
  21. XM_011515949.1XP_011514251.1  

    Related
    ENSP00000418900, OTTHUMP00000212248, ENST00000484475, OTTHUMT00000349046
    Conserved Domains (1) summary
    pfam05109
    Location:149371
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
  22. XM_006715903.2XP_006715966.1  

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  23. XM_011515950.1XP_011514252.1  

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  24. XM_011515951.1XP_011514253.1  

    See identical proteins and their annotated locations for XP_011514253.1

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  25. XM_011515948.1XP_011514250.1  

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  26. XM_011515952.1XP_011514254.1  

    See identical proteins and their annotated locations for XP_011514254.1

    Conserved Domains (1) summary
    pfam08313
    Location:281347
    SCA7; SCA7, zinc-binding domain
  27. XM_011515954.1XP_011514256.1  

    See identical proteins and their annotated locations for XP_011514256.1

    UniProtKB/Swiss-Prot
    Q9ULK2

RNA

  1. XR_927412.1 RNA Sequence

  2. XR_242226.3 RNA Sequence

  3. XR_927411.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    105178559..105450676 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)