FHI2A_HUMAN
ID FHI2A_HUMAN Reviewed; 765 AA.
AC Q5W0V3; Q5H9P7; Q5W0V2; Q8IY76; Q9HCH2;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=FHF complex subunit HOOK interacting protein 2A {ECO:0000305};
DE Short=FHIP2A;
GN Name=FHIP2A {ECO:0000312|HGNC:HGNC:29320}; Synonyms=FAM160B1, KIAA1600;
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 [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ILE-408.
RC TISSUE=Testis;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 25-765 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10997877; DOI=10.1093/dnares/7.4.271;
RA Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:273-281(2000).
RN [5]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [7]
RP INVOLVEMENT IN DISEASE, FUNCTION, TISSUE SPECIFICITY, AND VARIANT
RP 39-GLU--PRO-765 DEL.
RX PubMed=31353455; DOI=10.1111/cge.13612;
RA Mavioglu R.N., Kara B., Akansel G., Nalbant G., Tolun A.;
RT "FAM160B1 deficit associated with microcephaly, severe intellectual
RT disability, ataxia, behavioral abnormalities and speech problems.";
RL Clin. Genet. 96:456-460(2019).
CC -!- FUNCTION: Required for proper functioning of the nervous system.
CC {ECO:0000269|PubMed:31353455}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5W0V3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5W0V3-2; Sequence=VSP_024590, VSP_024591;
CC -!- TISSUE SPECIFICITY: [Isoform 1]: Expressed in all tissues tested,
CC highly expressed brain. {ECO:0000269|PubMed:31353455}.
CC -!- TISSUE SPECIFICITY: [Isoform 2]: Only detected at high levels in
CC testis. {ECO:0000269|PubMed:31353455}.
CC -!- SIMILARITY: Belongs to the FHIP family. {ECO:0000305}.
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DR EMBL; CR933692; CAI45992.1; -; mRNA.
DR EMBL; AL137025; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC037207; AAH37207.1; -; mRNA.
DR EMBL; AB046820; BAB13426.2; -; mRNA.
DR CCDS; CCDS31290.1; -. [Q5W0V3-1]
DR CCDS; CCDS44480.1; -. [Q5W0V3-2]
DR RefSeq; NP_001128523.1; NM_001135051.1. [Q5W0V3-2]
DR RefSeq; NP_065991.3; NM_020940.3. [Q5W0V3-1]
DR AlphaFoldDB; Q5W0V3; -.
DR BioGRID; 121725; 27.
DR IntAct; Q5W0V3; 8.
DR MINT; Q5W0V3; -.
DR STRING; 9606.ENSP00000358251; -.
DR GlyGen; Q5W0V3; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q5W0V3; -.
DR MetOSite; Q5W0V3; -.
DR PhosphoSitePlus; Q5W0V3; -.
DR BioMuta; FAM160B1; -.
DR DMDM; 74747988; -.
DR EPD; Q5W0V3; -.
DR jPOST; Q5W0V3; -.
DR MassIVE; Q5W0V3; -.
DR MaxQB; Q5W0V3; -.
DR PaxDb; Q5W0V3; -.
DR PeptideAtlas; Q5W0V3; -.
DR PRIDE; Q5W0V3; -.
DR ProteomicsDB; 65779; -. [Q5W0V3-1]
DR ProteomicsDB; 65780; -. [Q5W0V3-2]
DR Antibodypedia; 52360; 120 antibodies from 18 providers.
DR DNASU; 57700; -.
DR Ensembl; ENST00000369248.9; ENSP00000358251.4; ENSG00000151553.15. [Q5W0V3-1]
DR Ensembl; ENST00000369250.7; ENSP00000358253.3; ENSG00000151553.15. [Q5W0V3-2]
DR GeneID; 57700; -.
DR KEGG; hsa:57700; -.
DR MANE-Select; ENST00000369248.9; ENSP00000358251.4; NM_020940.4; NP_065991.3.
DR UCSC; uc001lcb.4; human. [Q5W0V3-1]
DR CTD; 57700; -.
DR DisGeNET; 57700; -.
DR GeneCards; FHIP2A; -.
DR HGNC; HGNC:29320; FHIP2A.
DR HPA; ENSG00000151553; Tissue enhanced (bone).
DR MIM; 617312; gene.
DR neXtProt; NX_Q5W0V3; -.
DR OpenTargets; ENSG00000151553; -.
DR VEuPathDB; HostDB:ENSG00000151553; -.
DR eggNOG; KOG3695; Eukaryota.
DR GeneTree; ENSGT00950000182936; -.
DR HOGENOM; CLU_023718_0_0_1; -.
DR InParanoid; Q5W0V3; -.
DR OMA; WFASRFP; -.
DR OrthoDB; 266554at2759; -.
DR PhylomeDB; Q5W0V3; -.
DR TreeFam; TF313941; -.
DR PathwayCommons; Q5W0V3; -.
DR SignaLink; Q5W0V3; -.
DR BioGRID-ORCS; 57700; 9 hits in 1077 CRISPR screens.
DR ChiTaRS; FAM160B1; human.
DR GenomeRNAi; 57700; -.
DR Pharos; Q5W0V3; Tdark.
DR PRO; PR:Q5W0V3; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q5W0V3; protein.
DR Bgee; ENSG00000151553; Expressed in epithelial cell of pancreas and 191 other tissues.
DR ExpressionAtlas; Q5W0V3; baseline and differential.
DR Genevisible; Q5W0V3; HS.
DR InterPro; IPR019384; FHIP.
DR InterPro; IPR045669; FHIP_C.
DR InterPro; IPR045668; FHIP_KELAA_motif.
DR PANTHER; PTHR21705; PTHR21705; 1.
DR Pfam; PF19314; DUF5917; 1.
DR Pfam; PF19311; KELAA; 1.
DR Pfam; PF10257; RAI16-like; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..765
FT /note="FHF complex subunit HOOK interacting protein 2A"
FT /id="PRO_0000284648"
FT REGION 193..236
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 532..561
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 193..216
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 535..554
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 731..738
FT /note="IIDHITLL -> MQTLPSWW (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024590"
FT VAR_SEQ 739..765
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024591"
FT VARIANT 39..765
FT /note="Missing (found in a patient with microcephaly severe
FT intellectual disability, ataxia, behavioral abnormalities
FT and speech problems; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:31353455"
FT /id="VAR_084432"
FT VARIANT 408
FT /note="L -> I (in dbSNP:rs17853717)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031793"
FT VARIANT 631
FT /note="F -> L (in dbSNP:rs3180654)"
FT /id="VAR_031794"
FT CONFLICT 39
FT /note="E -> G (in Ref. 1; CAI45992)"
FT /evidence="ECO:0000305"
FT CONFLICT 120
FT /note="Q -> R (in Ref. 1; CAI45992)"
FT /evidence="ECO:0000305"
FT CONFLICT 600
FT /note="R -> G (in Ref. 1; CAI45992)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 765 AA; 86558 MW; 3F65615B0DE5CED3 CRC64;
MFSKFTSILQ HAVEALAPSL PLQEDFVYHW KAITHYYIET SDDKAPVTDT NIPSHLEQML
DILVQEENER ESGETGPCME YLLHHKILET LYTLGKADCP PGMKQQVLVF YTKLLGRIRQ
PLLPHINVHR PVQKLIRLCG EVLATPTENE EIQFLCIVCA KLKQDPYLVN FFLENKMKSL
ASKGVPNVIS EDTLKGQDSL STDTGQSRQP EELSGATGME QTELEDEPPH QMDHLSTSLD
NLSVTSLPEA SVVCPNQDYN LVNSLLNLTR SPDGRIAVKA CEGLMLLVSL PEPAAAKCLT
QSTCLCELLT DRLASLYKAL PQSVDPLDIE TVEAINWGLD SYSHKEDASA FPGKRALISF
LSWFDYCDQL IKEAQKTAAV ALAKAVHERF FIGVMEPQLM QTSEMGILTS TALLHRIVRQ
VTSDVLLQEM VFFILGEQRE PETLAEISRH PLRHRLIEHC DHISDEISIM TLRMFEHLLQ
KPNEHILYNL VLRNLEERNY TEYKPLCPED KDVVENGLIA GAVDLEEDPL FTDISPENTL
PNQEWLSSSP PATPDHPKND GKTEVHKIVN SFLCLVPDDA KSSYHVEGTG YDTYLRDAHR
QFRDYCAICL RWEWPGSPKA LEKCNLEAAF FEGHFLKVLF DRMGRILDQP YDVNLQVTSV
LSRLSLFPHP HIHEYLLDPY VNLAPGCRSL FSVIVRVVGD LMLRIQRIQD FTPKLLLVRK
RLLGLEPEGP IIDHITLLEG VIVLEEFCKE LAAIAFVKYH ASSTP
