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ALS2CL ALS2 C-terminal like [ Homo sapiens (human) ]

Gene ID: 259173, updated on 21-Dec-2019

Summary

Official Symbol
ALS2CLprovided by HGNC
Official Full Name
ALS2 C-terminal likeprovided by HGNC
Primary source
HGNC:HGNC:20605
See related
Ensembl:ENSG00000178038 MIM:612402
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
RN49018
Expression
Broad expression in skin (RPKM 30.9), esophagus (RPKM 10.4) and 18 other tissues See more
Orthologs

Genomic context

See ALS2CL in Genome Data Viewer
Location:
3p21.31
Exon count:
32
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (46668995..46693693, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (46710485..46735194, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 2 Neighboring gene teratocarcinoma-derived growth factor 1 Neighboring gene family with sequence similarity 240 member A Neighboring gene transmembrane inner ear Neighboring gene serine protease 50

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129698, DKFZp686P238

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endosome organization IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ALS2 C-terminal-like protein

NCBI Reference Sequences (RefSeq)

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_001190707.2NP_001177636.1  ALS2 C-terminal-like protein isoform 1

    See identical proteins and their annotated locations for NP_001177636.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC134504, AK126505, AK131270, DA242202, DB350037
    Consensus CDS
    CCDS2743.1
    UniProtKB/Swiss-Prot
    Q60I27
    UniProtKB/TrEMBL
    A0A024R2U1
    Related
    ENSP00000413223.1, ENST00000415953.5
    Conserved Domains (4) summary
    COG4642
    Location:358519
    COG4642; Uncharacterized conserved protein [Function unknown]
    pfam02204
    Location:834938
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam02493
    Location:358378
    MORN; MORN repeat
    cl17171
    Location:223321
    PH-like; Pleckstrin homology-like domain
  2. NM_147129.5NP_667340.2  ALS2 C-terminal-like protein isoform 1

    See identical proteins and their annotated locations for NP_667340.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the same isoform (1) as variant 2.
    Source sequence(s)
    AB107015, AC134504, AK126505, DB350037
    Consensus CDS
    CCDS2743.1
    UniProtKB/Swiss-Prot
    Q60I27
    UniProtKB/TrEMBL
    A0A024R2U1
    Related
    ENSP00000313670.4, ENST00000318962.9
    Conserved Domains (4) summary
    COG4642
    Location:358519
    COG4642; Uncharacterized conserved protein [Function unknown]
    pfam02204
    Location:834938
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam02493
    Location:358378
    MORN; MORN repeat
    cl17171
    Location:223321
    PH-like; Pleckstrin homology-like domain

RNA

  1. NR_033815.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC134504, AK126505, AL832132, DB350037
  2. NR_135622.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC104304, AC134504

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    46668995..46693693 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265025.1XP_005265082.1  ALS2 C-terminal-like protein isoform X5

    See identical proteins and their annotated locations for XP_005265082.1

    UniProtKB/Swiss-Prot
    Q60I27
    Conserved Domains (2) summary
    COG4642
    Location:284
    COG4642; Uncharacterized conserved protein [Function unknown]
    pfam02204
    Location:349453
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
  2. XM_006713091.2XP_006713154.1  ALS2 C-terminal-like protein isoform X1

    See identical proteins and their annotated locations for XP_006713154.1

    Conserved Domains (3) summary
    COG4642
    Location:358519
    COG4642; Uncharacterized conserved protein [Function unknown]
    pfam02493
    Location:358378
    MORN; MORN repeat
    cl17171
    Location:223321
    PH-like; Pleckstrin homology-like domain
  3. XM_006713093.3XP_006713156.1  ALS2 C-terminal-like protein isoform X3

    Related
    ENSP00000405335.1, ENST00000434140.5
    Conserved Domains (2) summary
    pfam02493
    Location:358378
    MORN; MORN repeat
    cl17171
    Location:223321
    PH-like; Pleckstrin homology-like domain
  4. XM_006713094.3XP_006713157.1  ALS2 C-terminal-like protein isoform X4

    Conserved Domains (2) summary
    pfam02493
    Location:358378
    MORN; MORN repeat
    cl17171
    Location:223321
    PH-like; Pleckstrin homology-like domain
  5. XM_011533572.2XP_011531874.1  ALS2 C-terminal-like protein isoform X2

    Conserved Domains (2) summary
    pfam02493
    Location:358378
    MORN; MORN repeat
    cl17171
    Location:223321
    PH-like; Pleckstrin homology-like domain

RNA

  1. XR_940410.1 RNA Sequence

  2. XR_001740094.1 RNA Sequence

  3. XR_940405.1 RNA Sequence

  4. XR_001740097.1 RNA Sequence

  5. XR_001740096.1 RNA Sequence

  6. XR_001740092.1 RNA Sequence

  7. XR_940407.1 RNA Sequence

  8. XR_940408.3 RNA Sequence

  9. XR_001740090.1 RNA Sequence

  10. XR_940409.2 RNA Sequence

  11. XR_940406.2 RNA Sequence

  12. XR_001740093.1 RNA Sequence

  13. XR_001740091.1 RNA Sequence

  14. XR_001740095.1 RNA Sequence

  15. XR_940412.1 RNA Sequence

  16. XR_427263.1 RNA Sequence

  17. XR_002959507.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_182775.2: Suppressed sequence

    Description
    NM_182775.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
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