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GRAMD1B GRAM domain containing 1B [ Homo sapiens (human) ]

Gene ID: 57476, updated on 26-Sep-2020

Summary

Official Symbol
GRAMD1Bprovided by HGNC
Official Full Name
GRAM domain containing 1Bprovided by HGNC
Primary source
HGNC:HGNC:29214
See related
Ensembl:ENSG00000023171
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
LINC01059
Expression
Biased expression in adrenal (RPKM 12.4), duodenum (RPKM 5.7) and 11 other tissues See more
Orthologs

Genomic context

See GRAMD1B in Genome Data Viewer
Location:
11q24.1
Exon count:
34
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (123358299..123627789)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (123325191..123498478)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2727 Neighboring gene prohibitin pseudogene 17 Neighboring gene microRNA 4493 Neighboring gene Sharpr-MPRA regulatory region 13459 Neighboring gene splicing factor 3a, subunit 3 pseudogene 2 Neighboring gene uncharacterized LOC105369543 Neighboring gene sodium voltage-gated channel beta subunit 3 Neighboring gene zinc finger protein 202

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

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
GeneReviews: Not available
A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.
GeneReviews: Not available
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.
GeneReviews: Not available
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
GeneReviews: Not available
Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1201, MGC125622, MGC125623, MGC125625, AP000783.2

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding ISS
Inferred from Sequence or Structural Similarity
more info
 
intermembrane cholesterol transfer activity ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidic acid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylserine binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cellular response to cholesterol ISS
Inferred from Sequence or Structural Similarity
more info
 
cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
sterol transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein Aster-B
Names
GRAM domain-containing protein 1B
long intergenic non-protein coding RNA 1059

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_001286563.3NP_001273492.1  protein Aster-B isoform 1

    See identical proteins and their annotated locations for NP_001273492.1

    Status: VALIDATED

    Source sequence(s)
    AK127457, AP000841, AP002765, BC107480
    Consensus CDS
    CCDS66253.1
    UniProtKB/Swiss-Prot
    Q3KR37
    Related
    ENSP00000402457.2, ENST00000456860.6
    Conserved Domains (2) summary
    cd13220
    Location:114207
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:386530
    DUF4782; Domain of unknown function (DUF4782)
  2. NM_001286564.3NP_001273493.1  protein Aster-B isoform 3

    See identical proteins and their annotated locations for NP_001273493.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3), as well as variants 18 and 19, encodes isoform 3.
    Source sequence(s)
    AB033027, AK297606, AP002765
    Consensus CDS
    CCDS66254.1
    UniProtKB/Swiss-Prot
    Q3KR37
    UniProtKB/TrEMBL
    B7Z4N9
    Related
    ENSP00000432987.1, ENST00000529432.5
    Conserved Domains (2) summary
    cd13220
    Location:67160
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:335483
    DUF4782; Domain of unknown function (DUF4782)
  3. NM_001330396.3NP_001317325.1  protein Aster-B isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 20 and 21, encodes isoform 4.
    Source sequence(s)
    AP000841, AP002765
    Consensus CDS
    CCDS81640.1
    UniProtKB/TrEMBL
    A0A024R3M2
    Conserved Domains (2) summary
    cd13220
    Location:67160
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:339483
    DUF4782; Domain of unknown function (DUF4782)
  4. NM_001354837.2NP_001341766.1  protein Aster-B isoform 9

    Status: VALIDATED

    Source sequence(s)
    AP000783, BI256024, BU622943
    Consensus CDS
    CCDS86254.1
    Related
    ENSP00000490665.1, ENST00000533341.3
  5. NM_001367418.2NP_001354347.1  protein Aster-B isoform 5

    Status: VALIDATED

    Source sequence(s)
    AP000841, AP001782, AP002765
    Conserved Domains (2) summary
    cd13220
    Location:134227
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:406550
    DUF4782; Domain of unknown function (DUF4782)
  6. NM_001367419.2NP_001354348.1  protein Aster-B isoform 6

    Status: VALIDATED

    Source sequence(s)
    AP000841, AP001782, AP002765
    Conserved Domains (2) summary
    cd13220
    Location:134227
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:406550
    DUF4782; Domain of unknown function (DUF4782)
  7. NM_001367420.2NP_001354349.1  protein Aster-B isoform 7

    Status: VALIDATED

    Source sequence(s)
    AP000841, AP001782, AP002765
    Conserved Domains (2) summary
    cd13220
    Location:134227
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:402550
    DUF4782; Domain of unknown function (DUF4782)
  8. NM_001367421.2NP_001354350.1  protein Aster-B isoform 8

    Status: VALIDATED

    Source sequence(s)
    AP000783, AP000841, AP001782, AP002765
    Related
    ENSP00000490062.1, ENST00000635736.1
  9. NM_001387024.1NP_001373953.1  protein Aster-B isoform 10

    Status: VALIDATED

    Source sequence(s)
    AP000783, AP000841, AP002765
  10. NM_001387025.1NP_001373954.1  protein Aster-B isoform 11

    Status: VALIDATED

    Source sequence(s)
    AP000783, AP000841, AP002765
  11. NM_001387026.1NP_001373955.1  protein Aster-B isoform 12

    Status: VALIDATED

    Source sequence(s)
    AP000783, AP000841, AP002765
  12. NM_001387028.1NP_001373957.1  protein Aster-B isoform 13

    Status: VALIDATED

    Source sequence(s)
    AP000841, AP002765
  13. NM_001387029.1NP_001373958.1  protein Aster-B isoform 14

    Status: VALIDATED

    Source sequence(s)
    AP000841, AP002765
  14. NM_001387030.1NP_001373959.1  protein Aster-B isoform 15

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15), as well as variant 16, encodes isoform 15.
    Source sequence(s)
    AP000783, AP000841, AP002765
  15. NM_001387031.1NP_001373960.1  protein Aster-B isoform 15

    Status: VALIDATED

    Description
    Transcript Variant: This variant (16), as well as variant 15, encodes isoform 15.
    Source sequence(s)
    AP002765
  16. NM_001387032.1NP_001373961.1  protein Aster-B isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (17), as well as variants 3 and 18, encodes isoform 3.
    Source sequence(s)
    AP000841, AP002765
  17. NM_001387033.1NP_001373962.1  protein Aster-B isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (18), as well as variants 3 and 17, encodes isoform 3.
    Source sequence(s)
    AP000841, AP002765
  18. NM_001387034.1NP_001373963.1  protein Aster-B isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (19), as well as variants 4 and 20, encodes isoform 4.
    Source sequence(s)
    AP000783, AP000841, AP002765
  19. NM_001387035.1NP_001373964.1  protein Aster-B isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (20), as well as variants 4 and 19, encodes isoform 4.
    Source sequence(s)
    AP002765
  20. NM_020716.4NP_065767.1  protein Aster-B isoform 2

    See identical proteins and their annotated locations for NP_065767.1

    Status: VALIDATED

    Source sequence(s)
    AI815988, AK127457, AP000841, AP002765, BC107480
    Consensus CDS
    CCDS53720.1
    UniProtKB/Swiss-Prot
    Q3KR37
    Related
    ENSP00000436500.1, ENST00000529750.5
    Conserved Domains (2) summary
    cd13220
    Location:107200
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:379523
    DUF4782; Domain of unknown function (DUF4782)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    123358299..123627789
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018039.1XP_016873528.1  protein Aster-B isoform X3

    Conserved Domains (2) summary
    cd13220
    Location:134227
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:406550
    DUF4782; Domain of unknown function (DUF4782)
  2. XM_024448622.1XP_024304390.1  protein Aster-B isoform X8

    Conserved Domains (2) summary
    cd13220
    Location:108201
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:380524
    DUF4782; Domain of unknown function (DUF4782)
  3. XM_024448624.1XP_024304392.1  protein Aster-B isoform X18

  4. XM_024448623.1XP_024304391.1  protein Aster-B isoform X18

  5. XM_006718892.3XP_006718955.1  protein Aster-B isoform X1

    Conserved Domains (2) summary
    cd13220
    Location:150243
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:422566
    DUF4782; Domain of unknown function (DUF4782)
  6. XM_011542926.2XP_011541228.1  protein Aster-B isoform X2

  7. XM_017018040.1XP_016873529.1  protein Aster-B isoform X5

    Conserved Domains (2) summary
    cd13220
    Location:124217
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:396540
    DUF4782; Domain of unknown function (DUF4782)
  8. XM_005271621.4XP_005271678.1  protein Aster-B isoform X13

    Conserved Domains (2) summary
    cd13220
    Location:67160
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:335479
    DUF4782; Domain of unknown function (DUF4782)
  9. XM_017018045.1XP_016873534.1  protein Aster-B isoform X13

    Conserved Domains (2) summary
    cd13220
    Location:67160
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:335479
    DUF4782; Domain of unknown function (DUF4782)
  10. XM_017018046.1XP_016873535.1  protein Aster-B isoform X13

    Conserved Domains (2) summary
    cd13220
    Location:67160
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:335479
    DUF4782; Domain of unknown function (DUF4782)
  11. XM_011542931.2XP_011541233.1  protein Aster-B isoform X13

    See identical proteins and their annotated locations for XP_011541233.1

    Conserved Domains (2) summary
    cd13220
    Location:67160
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:335479
    DUF4782; Domain of unknown function (DUF4782)
  12. XM_017018047.1XP_016873536.1  protein Aster-B isoform X15

    UniProtKB/Swiss-Prot
    Q3KR37
    Conserved Domains (2) summary
    cd13220
    Location:67160
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:335483
    DUF4782; Domain of unknown function (DUF4782)
  13. XM_017018048.1XP_016873537.1  protein Aster-B isoform X15

    UniProtKB/Swiss-Prot
    Q3KR37
    Conserved Domains (2) summary
    cd13220
    Location:67160
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:335483
    DUF4782; Domain of unknown function (DUF4782)
  14. XM_017018044.1XP_016873533.1  protein Aster-B isoform X12

    Conserved Domains (2) summary
    cd13220
    Location:107200
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:379523
    DUF4782; Domain of unknown function (DUF4782)
  15. XM_005271619.4XP_005271676.1  protein Aster-B isoform X10

    Related
    ENSP00000325628.7, ENST00000322282.11
  16. XM_005271624.4XP_005271681.2  protein Aster-B isoform X4

    Conserved Domains (2) summary
    cd13220
    Location:126219
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:398542
    DUF4782; Domain of unknown function (DUF4782)
  17. XM_017018043.1XP_016873532.1  protein Aster-B isoform X9

    Conserved Domains (2) summary
    cd13220
    Location:126219
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:398542
    DUF4782; Domain of unknown function (DUF4782)
  18. XM_011542929.2XP_011541231.1  protein Aster-B isoform X11

  19. XM_005271623.4XP_005271680.1  protein Aster-B isoform X13

    Conserved Domains (2) summary
    cd13220
    Location:67160
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:335479
    DUF4782; Domain of unknown function (DUF4782)
  20. XM_017018050.1XP_016873539.1  protein Aster-B isoform X16

    UniProtKB/TrEMBL
    A0A024R3M2
    Related
    ENSP00000489896.1, ENST00000638157.1
    Conserved Domains (2) summary
    cd13220
    Location:67160
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:339483
    DUF4782; Domain of unknown function (DUF4782)
  21. XM_011542930.2XP_011541232.1  protein Aster-B isoform X13

    See identical proteins and their annotated locations for XP_011541232.1

  22. XM_011542933.1XP_011541235.1  protein Aster-B isoform X14

    Related
    ENSP00000494891.1, ENST00000646146.1
  23. XM_017018051.1XP_016873540.1  protein Aster-B isoform X17

    Conserved Domains (2) summary
    pfam16016
    Location:221365
    DUF4782; Domain of unknown function (DUF4782)
    cl17171
    Location:142
    PH-like; Pleckstrin homology-like domain
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