HIG1B_HUMAN
ID HIG1B_HUMAN Reviewed; 99 AA.
AC Q9P298; D3DX57; Q9P297;
DT 27-SEP-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=HIG1 domain family member 1B;
DE AltName: Full=Protein CLST 11240;
GN Name=HIGD1B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ASN-86.
RA Okaze H., Hayashi A., Kozuma S., Saito T.;
RT "CLST 11240 protein similar to HSPC010.";
RL Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP STRUCTURE BY NMR.
RX PubMed=22609626; DOI=10.1038/nmeth.2033;
RA Klammt C., Maslennikov I., Bayrhuber M., Eichmann C., Vajpai N., Chiu E.J.,
RA Blain K.Y., Esquivies L., Kwon J.H., Balana B., Pieper U., Sali A.,
RA Slesinger P.A., Kwiatkowski W., Riek R., Choe S.;
RT "Facile backbone structure determination of human membrane proteins by NMR
RT spectroscopy.";
RL Nat. Methods 9:834-839(2012).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255|PROSITE-ProRule:PRU00836};
CC Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00836}.
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DR EMBL; AB038021; BAA90725.1; -; mRNA.
DR EMBL; AB038022; BAA90726.1; -; mRNA.
DR EMBL; CH471178; EAW51575.1; -; Genomic_DNA.
DR EMBL; CH471178; EAW51576.1; -; Genomic_DNA.
DR EMBL; BC020667; AAH20667.1; -; mRNA.
DR CCDS; CCDS11488.1; -.
DR RefSeq; NP_001258809.1; NM_001271880.1.
DR RefSeq; NP_057522.1; NM_016438.3.
DR RefSeq; XP_006722009.1; XM_006721946.2.
DR RefSeq; XP_006722010.1; XM_006721947.3.
DR RefSeq; XP_006722011.1; XM_006721948.3.
DR RefSeq; XP_011523193.1; XM_011524891.2.
DR RefSeq; XP_016880231.1; XM_017024742.1.
DR RefSeq; XP_016880232.1; XM_017024743.1.
DR PDB; 2LON; NMR; -; A=1-99.
DR PDBsum; 2LON; -.
DR AlphaFoldDB; Q9P298; -.
DR BMRB; Q9P298; -.
DR SMR; Q9P298; -.
DR BioGRID; 119712; 1.
DR IntAct; Q9P298; 1.
DR STRING; 9606.ENSP00000253410; -.
DR iPTMnet; Q9P298; -.
DR PhosphoSitePlus; Q9P298; -.
DR BioMuta; HIGD1B; -.
DR DMDM; 74734852; -.
DR MassIVE; Q9P298; -.
DR PaxDb; Q9P298; -.
DR PeptideAtlas; Q9P298; -.
DR PRIDE; Q9P298; -.
DR ProteomicsDB; 83761; -.
DR Antibodypedia; 63991; 41 antibodies from 10 providers.
DR DNASU; 51751; -.
DR Ensembl; ENST00000253410.3; ENSP00000253410.1; ENSG00000131097.7.
DR Ensembl; ENST00000591513.5; ENSP00000468511.1; ENSG00000131097.7.
DR GeneID; 51751; -.
DR KEGG; hsa:51751; -.
DR MANE-Select; ENST00000253410.3; ENSP00000253410.1; NM_016438.4; NP_057522.1.
DR UCSC; uc002ihm.4; human.
DR CTD; 51751; -.
DR GeneCards; HIGD1B; -.
DR HGNC; HGNC:24318; HIGD1B.
DR HPA; ENSG00000131097; Tissue enhanced (brain, placenta).
DR neXtProt; NX_Q9P298; -.
DR OpenTargets; ENSG00000131097; -.
DR PharmGKB; PA142671682; -.
DR VEuPathDB; HostDB:ENSG00000131097; -.
DR eggNOG; KOG4431; Eukaryota.
DR GeneTree; ENSGT00940000161778; -.
DR HOGENOM; CLU_153308_2_0_1; -.
DR InParanoid; Q9P298; -.
DR OMA; GPTKMSI; -.
DR OrthoDB; 1307900at2759; -.
DR PhylomeDB; Q9P298; -.
DR PathwayCommons; Q9P298; -.
DR SignaLink; Q9P298; -.
DR BioGRID-ORCS; 51751; 22 hits in 1061 CRISPR screens.
DR ChiTaRS; HIGD1B; human.
DR GenomeRNAi; 51751; -.
DR Pharos; Q9P298; Tdark.
DR PRO; PR:Q9P298; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9P298; protein.
DR Bgee; ENSG00000131097; Expressed in apex of heart and 136 other tissues.
DR ExpressionAtlas; Q9P298; baseline and differential.
DR Genevisible; Q9P298; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0097250; P:mitochondrial respirasome assembly; IBA:GO_Central.
DR InterPro; IPR007667; Hypoxia_induced_domain.
DR Pfam; PF04588; HIG_1_N; 1.
DR PROSITE; PS51503; HIG1; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..99
FT /note="HIG1 domain family member 1B"
FT /id="PRO_0000215774"
FT TOPO_DOM 1..29
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 30..47
FT /note="Helical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00836"
FT TOPO_DOM 48..61
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 62..84
FT /note="Helical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00836"
FT TOPO_DOM 85..99
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 1..94
FT /note="HIG1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00836"
FT VARIANT 86
FT /note="S -> N (in dbSNP:rs1071682)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_049354"
FT VARIANT 87
FT /note="D -> N (in dbSNP:rs2231650)"
FT /id="VAR_049355"
FT STRAND 11..14
FT /evidence="ECO:0007829|PDB:2LON"
FT HELIX 18..24
FT /evidence="ECO:0007829|PDB:2LON"
FT HELIX 30..49
FT /evidence="ECO:0007829|PDB:2LON"
FT HELIX 66..87
FT /evidence="ECO:0007829|PDB:2LON"
FT STRAND 89..92
FT /evidence="ECO:0007829|PDB:2LON"
SQ SEQUENCE 99 AA; 11058 MW; 2B5AF9EE5F27FB05 CRC64;
MSANRRWWVP PDDEDCVSEK LLRKTRESPL VPIGLGGCLV VAAYRIYRLR SRGSTKMSIH
LIHTRVAAQA CAVGAIMLGA VYTMYSDYVK RMAQDAGEK
