LOCUS       NM_001004319             684 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens VHL like (VHLL), mRNA.
ACCESSION   NM_001004319 XM_496416
VERSION     NM_001004319.3
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 684)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 684)
  AUTHORS   Minervini,G., Quaglia,F., Tabaro,F. and Tosatto,S.C.E.
  TITLE     Insights into the molecular features of the von Hippel-Lindau-like
            protein
  JOURNAL   Amino Acids 51 (10-12), 1461-1474 (2019)
   PUBMED   31485743
  REMARK    GeneRIF: von Hippel-Lindau-like protein (VLP) is conserved in upper
            mammals and specifically expressed in brain and testis. Structural
            analysis and molecular dynamics simulations show VLP to be similar
            to von Hippel-Lindau tumor suppressor protein (pVHL)
            three-dimensional organization and binding dynamics. Conservation
            of elements at the protein interfaces suggests VLP to be a
            functional pVHL homolog possessing multiple functions.
REFERENCE   3  (bases 1 to 684)
  AUTHORS   Kamatani,Y., Matsuda,K., Okada,Y., Kubo,M., Hosono,N., Daigo,Y.,
            Nakamura,Y. and Kamatani,N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   4  (bases 1 to 684)
  AUTHORS   Qi,H., Gervais,M.L., Li,W., DeCaprio,J.A., Challis,J.R. and Ohh,M.
  TITLE     Molecular cloning and characterization of the von
            Hippel-Lindau-like protein
  JOURNAL   Mol Cancer Res 2 (1), 43-52 (2004)
   PUBMED   14757845
REFERENCE   5  (bases 1 to 684)
  AUTHORS   Bradley,J.F. and Rothberg,P.G.
  TITLE     Processed pseudogene from the von Hippel-Lindau disease gene is
            located on human chromosome 1
  JOURNAL   Diagn Mol Pathol 8 (2), 101-106 (1999)
   PUBMED   10475385
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL589685.17.
            
            On Nov 27, 2019 this sequence version replaced NM_001004319.2.
            
            Summary: Von Hippel-Lindau (VHL) tumor suppressor protein is a
            component of an E3 ubiquitin ligase complex that selectively
            ubiquitinates the alpha subunit of the hypoxia-inducible factor
            (HIF) transcription factor for proteasome-mediated degradation.
            Inactivation of VHL causes VHL disease and sporadic kidney cancer.
            This gene encodes a VHL homolog that lacks one of two key domains
            necessary for VHL function. This gene may contribute to the
            regulation of oxygen homeostasis and neovascularization during
            placenta development. This gene is intronless, and can also be
            interpreted as a retrotransposed pseudogene of the VHL locus
            located on chromosome 3. However, the protein is represented in
            this RefSeq due to evidence in PMID:14757845 that strongly suggests
            it is translated. The same publication also indicates that this
            protein binds HIF alpha but fails to recruit the E3 ubiquitin
            ligase complex, and it therefore functions as a dominant-negative
            VHL protein and a protector of HIF alpha. [provided by RefSeq, Jan
            2010].
            
            ##Evidence-Data-START##
            Transcript is intronless :: AY494836.1, BC130596.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339922.5/ ENSP00000464258.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-684               AL589685.17        24144-24827         c
FEATURES             Location/Qualifiers
     source          1..684
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..684
                     /gene="VHLL"
                     /gene_synonym="VHLP; VLP"
                     /note="VHL like"
                     /db_xref="GeneID:391104"
                     /db_xref="HGNC:HGNC:30666"
                     /db_xref="MIM:619650"
     exon            1..684
                     /gene="VHLL"
                     /gene_synonym="VHLP; VLP"
                     /inference="alignment:Splign:2.1.0"
     CDS             119..538
                     /gene="VHLL"
                     /gene_synonym="VHLP; VLP"
                     /note="VHL pseudogene; VHL-like protein; von Hippel-Lindau
                     tumor suppressor like"
                     /codon_start=1
                     /product="von Hippel-Lindau-like protein"
                     /protein_id="NP_001004319.1"
                     /db_xref="GeneID:391104"
                     /db_xref="HGNC:HGNC:30666"
                     /db_xref="MIM:619650"
                     /translation="MPWRAGNGVGLEAQAGTQEAGPEEYCQEELGAEEEMAARAAWPV
                     LRSVNSRELSRIIICNHSPRIVLPVWLNYYGKLLPYLTLLPGRDFRIHNFRSHPWLFR
                     DARTHDKLLVNQTELFVPSSNVNGQPVFANITLQCIP"
ORIGIN      
        1 gttatatact cccagccttt ctgattccat tgtaactctt gccgaaatcc gggtgaacgg
       61 aagtagtctc tttaagaact ggtatgggca ggcccaagtt gtcaaggctt cggaggtaat
      121 gccctggaga gcggggaacg gggtgggttt agaggcccag gcgggcaccc aggaggcagg
      181 cccagaagag tactgccagg aagagttggg cgccgaggag gagatggcag ccagagcagc
      241 atggcctgtg ctgcgctctg tgaactcacg cgagctctcc cggatcatca tctgcaatca
      301 cagcccacga atcgtgctgc ctgtgtggct caactactat ggcaagctgc tgccctacct
      361 gacgctgctg cccggcaggg acttccgcat ccacaacttc cgaagccacc cttggctctt
      421 cagagatgca aggacacatg ataagcttct ggttaaccaa actgaattgt ttgtgccatc
      481 ttccaatgtt aatggacagc ctgtttttgc caacatcaca ctgcagtgta taccctgaaa
      541 gagcaatgcc tccaggttgt cggaagccta gtcaagccca agaattacag gagactggac
      601 atcgtcagat cactctatga cgatctggaa gatcatccaa atgtgattga aagacctgga
      661 gcggctgacg caggagcaca gtga
//
