LOCUS       NM_014056               2722 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens HIG1 hypoxia inducible domain family member 1A
            (HIGD1A), transcript variant 3, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_014056
VERSION     NM_014056.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2722)
  AUTHORS   Li,M.R., Li,J.Z., Wang,D.H., Li,T.Y., Ye,L.H., Liang,X.J.,
            Zhang,H.C., Liu,Z.Q., Zhang,X.D., Li,J.Q., Liu,Y.Y., Pan,C.Q. and
            Dai,E.H.
  TITLE     The function role of HIGD1A in nonalcoholic steatohepatitis from
            chronic hepatitis B
  JOURNAL   Scand J Gastroenterol 59 (4), 445-455 (2024)
   PUBMED   38053282
  REMARK    GeneRIF: The function role of HIGD1A in nonalcoholic
            steatohepatitis from chronic hepatitis B.
REFERENCE   2  (bases 1 to 2722)
  AUTHORS   Li,L., Zhao,J., Zhang,H., Li,D., Wu,S., Xu,W., Pan,X., Hu,W.,
            Chu,J., Luo,W., Li,P. and Zhou,X.
  TITLE     HIGD1A inactivated by DNA hypermethylation promotes invasion of
            kidney renal clear cell carcinoma
  JOURNAL   Pathol Res Pract 245, 154463 (2023)
   PUBMED   37086631
  REMARK    GeneRIF: HIGD1A inactivated by DNA hypermethylation promotes
            invasion of kidney renal clear cell carcinoma.
REFERENCE   3  (bases 1 to 2722)
  AUTHORS   Xie,Z., Shen,S., Huang,K., Wang,W., Liu,Z., Zhang,H., Lu,M.,
            Sun,J., Hou,J., Liu,H., Guo,H. and Zhang,X.
  TITLE     Mitochondrial HIGD1A inhibits hepatitis B virus transcription and
            replication through the cellular PNKD-NF-kappaB-NR2F1 nexus
  JOURNAL   J Med Virol 95 (4), e28749 (2023)
   PUBMED   37185850
  REMARK    GeneRIF: Mitochondrial HIGD1A inhibits hepatitis B virus
            transcription and replication through the cellular
            PNKD-NF-kappaB-NR2F1 nexus.
REFERENCE   4  (bases 1 to 2722)
  AUTHORS   Jia,Y.Z., Liu,J., Wang,G.Q., Pan,H., Huang,T.Z., Liu,R. and
            Zhang,Y.
  TITLE     HIG1 domain family member 1A is a crucial regulator of disorders
            associated with hypoxia
  JOURNAL   Mitochondrion 69, 171-182 (2023)
   PUBMED   36804467
  REMARK    GeneRIF: HIG1 domain family member 1A is a crucial regulator of
            disorders associated with hypoxia.
            Review article
REFERENCE   5  (bases 1 to 2722)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   6  (bases 1 to 2722)
  AUTHORS   Vukotic,M., Oeljeklaus,S., Wiese,S., Vogtle,F.N., Meisinger,C.,
            Meyer,H.E., Zieseniss,A., Katschinski,D.M., Jans,D.C., Jakobs,S.,
            Warscheid,B., Rehling,P. and Deckers,M.
  TITLE     Rcf1 mediates cytochrome oxidase assembly and respirasome
            formation, revealing heterogeneity of the enzyme complex
  JOURNAL   Cell Metab 15 (3), 336-347 (2012)
   PUBMED   22342701
REFERENCE   7  (bases 1 to 2722)
  AUTHORS   An,H.J., Shin,H., Jo,S.G., Kim,Y.J., Lee,J.O., Paik,S.G. and Lee,H.
  TITLE     The survival effect of mitochondrial Higd-1a is associated with
            suppression of cytochrome C release and prevention of caspase
            activation
  JOURNAL   Biochim Biophys Acta 1813 (12), 2088-2098 (2011)
   PUBMED   21856340
REFERENCE   8  (bases 1 to 2722)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2722)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (bases 1 to 2722)
  AUTHORS   Denko,N., Schindler,C., Koong,A., Laderoute,K., Green,C. and
            Giaccia,A.
  TITLE     Epigenetic regulation of gene expression in cervical cancer cells
            by the tumor microenvironment
  JOURNAL   Clin Cancer Res 6 (2), 480-487 (2000)
   PUBMED   10690527
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG708126.1, BC070277.1, BM983580.1, AC099329.2 and BM983292.1.
            
            On Feb 27, 2020 this sequence version replaced NM_014056.3.
            
            Transcript Variant: This variant (3) contains a distinct 5' UTR and
            lacks a portion of the 5' coding region, compared to variant 1.
            These differences cause translation initiation at a downstream AUG
            and a protein (isoform b) with a shorter N-terminus compared to
            isoform a. Both variants 2 and 3 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225571.1, SRR14038194.4184544.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000321331.12/
                                                  ENSP00000319393.7
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 BG708126.1         51-52
            3-953               BC070277.1         1-951
            954-1325            BM983580.1         21-392              c
            1326-2245           AC099329.2         59852-60771         c
            2246-2722           BM983292.1         15-491              c
FEATURES             Location/Qualifiers
     source          1..2722
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     gene            1..2722
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
                     /note="HIG1 hypoxia inducible domain family member 1A"
                     /db_xref="GeneID:25994"
                     /db_xref="HGNC:HGNC:29527"
                     /db_xref="MIM:618623"
     exon            1..55
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
                     /inference="alignment:Splign:2.1.0"
     exon            56..174
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..359
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
                     /note="isoform b is encoded by transcript variant 3; HIG1
                     domain family, member 1A; hypoxia inducible gene 1;
                     hypoxia-inducible gene 1 protein; RCF1 homolog A; HIG1
                     domain family member 1A, mitochondrial"
                     /codon_start=1
                     /product="HIG1 domain family member 1A, mitochondrial
                     isoform b"
                     /protein_id="NP_054775.2"
                     /db_xref="CCDS:CCDS43073.1"
                     /db_xref="GeneID:25994"
                     /db_xref="HGNC:HGNC:29527"
                     /db_xref="MIM:618623"
                     /translation="MSTDTGVSLPSYEEDQGSKLIRKAKEAPFVPVGIAGFAAIVAYG
                     LYKLKSRGNTKMSIHLIHMRVAAQGFVVGAMTVGMGYSMYREFWAKPKP"
     exon            175..309
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
                     /inference="alignment:Splign:2.1.0"
     exon            310..2722
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
                     /inference="alignment:Splign:2.1.0"
     regulatory      443..448
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
                     /note="hexamer: AATAAA"
     polyA_site      474
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
                     /note="major polyA site"
     regulatory      1308..1313
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
                     /note="hexamer: ATTAAA"
     polyA_site      1327
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
                     /note="major polyA site"
     regulatory      2645..2650
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
                     /note="hexamer: AGTAAA"
     polyA_site      2668
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
     regulatory      2701..2706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
                     /note="hexamer: ATTAAA"
     polyA_site      2722
                     /gene="HIGD1A"
                     /gene_synonym="HIG1; RCF1a"
ORIGIN      
        1 gtgcgcctgc agggatcgga agccggttgg ggtgtgagag gttttctcgc tctagggaga
       61 ttcttcaagc aatcactatg tcaacagaca caggtgtttc ccttccttca tatgaggaag
      121 atcagggatc aaaactcatt cgaaaagcta aagaggcacc attcgtaccc gttggaatag
      181 cgggttttgc agcaattgtt gcatatggat tatataaact gaagagcagg ggaaatacta
      241 aaatgtccat tcatctgatc cacatgcgtg tggcagccca aggctttgtt gtaggagcaa
      301 tgactgttgg tatgggctat tccatgtatc gggaattctg ggcaaaacct aagccttaga
      361 agaagagatg ctgtcttggt cttgttggag gagcttgctt tagttagatg tcttattatt
      421 aaagttacct attattgttg gaaataaact aatttgtatg ggtttagatg gtaacatggc
      481 attttgaata ttggcttcct ttcttgcagg cttgatttgc ttggtgaccg aattactagt
      541 gactagttta ctaactaggt cattcaagga agtcaagtta acttaaacat gtcacctaaa
      601 tgcacttgat ggtgttgaaa tgtccacctt cttaaatttt taagatgaac ttagttctaa
      661 agaagataac aggccaatcc tgaaggtact ccctgtttgc tgcagaatgt cagatatttt
      721 ggatgttgca taagagtcct atttgcccca gttaattcaa cttttgtctg cctgttttgt
      781 ggactggctg gctctgttag aactctgtcc aaaaagtgca tggaatataa cttgtaaagc
      841 ttcccacaat tgacaatata tatgcatgtg tttaaaccaa atccagaaag cttaaacaat
      901 agagctgcat aatagtattt attaaagaat cacaactgta aacatgagaa taatttaagg
      961 attctagttt agttttttgt aattgcaaat tatatttttg ctgctgatat attagaataa
     1021 tttttaaatg tcatcttgaa atagaaatat gtattttaag cactcacgca aaggtaaatg
     1081 aacacgtttt aaatgtgtgt gttgctaatt ttttccataa gaattgtaaa cattgaactg
     1141 aacaaattac ctataatgga tttggttaat gacttatgag caagctggtt tggccagaca
     1201 gtatacccaa acttttatat aatatacaga aggctatcac acttgtgaaa ttctcttgtc
     1261 taatctgaat ttgcattcca tggtgttaac atggtatatg tattgttatt aaagtaagtg
     1321 acccatgtca aatgtctttt atttatttca tgaggaaaag ctttctgtag aggaacaaat
     1381 ttgagaacaa gtttcaggaa attgtctttt ttgttgttgt tctctaatca tgttctcctt
     1441 tctgtttcaa cgattttaaa aatattttac tttatggtat gttttatttt ttttcctttt
     1501 gtgggtaatt tttgttctat tgattatcca tataaatttt tttttttttt ttttgagacg
     1561 gagttattct ctgtcatctt ggctggcgtg cagtggcacg atcttggctc actgcaactt
     1621 ccatccccca ggttcaagtg attctcttgc ctcagcctcc tgagtagctg tgattacagg
     1681 catgcaccaa catgcctggc taatttttgt atatttagta gagacgaggt ttcaccatgt
     1741 tggccaggct gatcttgaat tcctgacctc aggttatcca cctgcctcgg cctcccaaag
     1801 tgctaggatt acaggcgtga gccaccacgc ccagctgatt atccatataa ttataacact
     1861 cttctattta ttttcagtca ccaataattc cttttgagca atatttaagc ctagcatatt
     1921 tcttccttcc ctcctcctct actaaccagt tctggtcgat atattattgg attttactct
     1981 tatactgttt gtttgtttgt ttgtttgttt attttgagac agagtcttgc tctgttgctg
     2041 aggctggagt acagtggtgt gatctgagct cacggcaccc tccacctcct agcttcgtgc
     2101 gattctgatg cttcaacctt ccgagtagct gggattacag gcatgcgcca ccatgtcggg
     2161 ctaatttttg tgtttttagt aaaggcgagg tttcaccatg ttggatgatc ttgaactcct
     2221 ggcttcaaga gatctatctg cctcagcctc ccaaagtgct gggattacaa gcataatcca
     2281 ccacacctga cctacttttg tatgttaaat gtgattatac ttctctttga cttgtcagct
     2341 tagctttagc tgatacactc tggtgcccaa ctattattgt atcagtgaac ttccactttc
     2401 ttttcctttt ctctcaattt ttgttgtatc attcctacct tgtgaggaca tataatattt
     2461 acattctgtt gtcatcctca catttcttag ttccacagtt taaatgtatt tgaaactcaa
     2521 aacattccca ttaatctctt ggtcagctga aattaatgat ttaatagttt ccttaaaaaa
     2581 gactcatgga acaatttccc taaatttttg ccatgtcaaa tatgtttatc tgtagccttt
     2641 acacagtaaa aacaatttgg ctagataata caattctcag ttcatatttt tctttggaat
     2701 attaaagtat tgctatagag aa
//
