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

Gene ID: 57476, updated on 22-Sep-2022

Summary

Official Symbol
GRAMD1Bprovided by HGNC
Official Full Name
GRAM domain containing 1Bprovided by HGNC
Primary source
HGNC:HGNC:29214
See related
Ensembl:ENSG00000023171 AllianceGenome:HGNC:29214
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
Summary
Predicted to enable cholesterol binding activity; cholesterol transfer activity; and phospholipid binding activity. Predicted to be involved in cellular response to cholesterol and cholesterol homeostasis. Located in endoplasmic reticulum membrane; endoplasmic reticulum-plasma membrane contact site; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in adrenal (RPKM 12.4), duodenum (RPKM 5.7) and 11 other tissues See more
Orthologs
NEW
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Try the new Transcript table

Genomic context

See GRAMD1B in Genome Data Viewer
Location:
11q24.1
Exon count:
35
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (123358422..123627767)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (123386861..123656743)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (123229130..123498475)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2727 Neighboring gene PHB1 pseudogene 17 Neighboring gene microRNA 4493 Neighboring gene uncharacterized LOC124902776 Neighboring gene Sharpr-MPRA regulatory region 13459 Neighboring gene splicing factor 3a, subunit 3 pseudogene 2 Neighboring gene uncharacterized LOC124902777 Neighboring gene uncharacterized LOC105369543 Neighboring gene sodium voltage-gated channel beta subunit 3

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

EBI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
EBI GWAS Catalog
A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.
EBI GWAS Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.
EBI GWAS Catalog
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
EBI GWAS Catalog
Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.
EBI GWAS Catalog

Pathways from PubChem

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
enables cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cholesterol binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables cholesterol transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cholesterol transfer activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables phosphatidic acid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables phosphatidylserine binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables sterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables sterol transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to cholesterol ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular sterol transport IBA
Inferred from Biological aspect of Ancestor
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)

NEW Try the new Transcript table

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:382530
    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:335483
    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
    UniProtKB/TrEMBL
    A0A1B0GVV0
    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:402550
    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:402550
    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
  9. NM_001387024.1NP_001373953.1  protein Aster-B isoform 10

    Status: VALIDATED

    Source sequence(s)
    AP000783, AP000841, AP002765
    Conserved Domains (2) summary
    cd13220
    Location:250343
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:518666
    DUF4782; Domain of unknown function (DUF4782)
  10. NM_001387025.1NP_001373954.1  protein Aster-B isoform 11

    Status: VALIDATED

    Source sequence(s)
    AP000783, AP000841, AP002765
    UniProtKB/TrEMBL
    A0A1B0GUD6
    Related
    ENSP00000490062.1, ENST00000635736.2
    Conserved Domains (2) summary
    cd13220
    Location:250343
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:518666
    DUF4782; Domain of unknown function (DUF4782)
  11. NM_001387026.1NP_001373955.1  protein Aster-B isoform 12

    Status: VALIDATED

    Source sequence(s)
    AP000783, AP000841, AP002765
    Conserved Domains (2) summary
    cd13220
    Location:249342
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:517665
    DUF4782; Domain of unknown function (DUF4782)
  12. NM_001387028.1NP_001373957.1  protein Aster-B isoform 13

    Status: VALIDATED

    Source sequence(s)
    AP000841, AP002765
    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:375523
    DUF4782; Domain of unknown function (DUF4782)
  13. NM_001387029.1NP_001373958.1  protein Aster-B isoform 14

    Status: VALIDATED

    Source sequence(s)
    AP000841, AP002765
    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:375523
    DUF4782; Domain of unknown function (DUF4782)
  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
    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)
  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
    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)
  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
    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)
  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
    Related
    ENSP00000490920.1, ENST00000638086.1
    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:335483
    DUF4782; Domain of unknown function (DUF4782)
  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
    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:335483
    DUF4782; Domain of unknown function (DUF4782)
  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
    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:335483
    DUF4782; Domain of unknown function (DUF4782)
  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, Q9ULL9
    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:375523
    DUF4782; Domain of unknown function (DUF4782)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    123358422..123627767
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427319.1XP_047283275.1  protein Aster-B isoform X1

  2. XM_047427324.1XP_047283280.1  protein Aster-B isoform X5

  3. XM_017018039.2XP_016873528.1  protein Aster-B isoform X11

    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)
  4. XM_024448622.2XP_024304390.1  protein Aster-B isoform X15

    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)
  5. XM_047427323.1XP_047283279.1  protein Aster-B isoform X5

  6. XM_006718892.4XP_006718955.1  protein Aster-B isoform X8

    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)
  7. XM_011542926.3XP_011541228.1  protein Aster-B isoform X9

    Conserved Domains (2) summary
    cd13220
    Location:149242
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:421565
    DUF4782; Domain of unknown function (DUF4782)
  8. XM_017018040.2XP_016873529.1  protein Aster-B isoform X13

    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)
  9. XM_047427322.1XP_047283278.1  protein Aster-B isoform X4

  10. XM_047427320.1XP_047283276.1  protein Aster-B isoform X2

  11. XM_047427321.1XP_047283277.1  protein Aster-B isoform X3

  12. XM_047427318.1XP_047283274.1  protein Aster-B isoform X1

  13. XM_047427327.1XP_047283283.1  protein Aster-B isoform X10

  14. XM_047427325.1XP_047283281.1  protein Aster-B isoform X6

  15. XM_047427330.1XP_047283286.1  protein Aster-B isoform X14

  16. XM_047427326.1XP_047283282.1  protein Aster-B isoform X7

  17. XM_017018046.2XP_016873535.1  protein Aster-B isoform X18

    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)
  18. XM_011542931.3XP_011541233.1  protein Aster-B isoform X18

    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:335483
    DUF4782; Domain of unknown function (DUF4782)
  19. XM_005271619.5XP_005271676.1  protein Aster-B isoform X16

    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)
  20. XM_047427328.1XP_047283284.1  protein Aster-B isoform X12

  21. XM_011542929.3XP_011541231.1  protein Aster-B isoform X17

    Conserved Domains (2) summary
    cd13220
    Location:103196
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:375519
    DUF4782; Domain of unknown function (DUF4782)
  22. XM_011542933.2XP_011541235.1  protein Aster-B isoform X19

    UniProtKB/TrEMBL
    A0A2R8Y5X2
    Related
    ENSP00000494891.1, ENST00000646146.1
    Conserved Domains (2) summary
    cd13220
    Location:71164
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam16016
    Location:343487
    DUF4782; Domain of unknown function (DUF4782)
  23. XM_047427331.1XP_047283287.1  protein Aster-B isoform X20

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    123386861..123656743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)