FHI1A_HUMAN
ID FHI1A_HUMAN Reviewed; 1040 AA.
AC Q05DH4; Q6ZUS2;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 101.
DE RecName: Full=FHF complex subunit HOOK interacting protein 1A {ECO:0000305};
DE Short=FHIP1A {ECO:0000305};
DE AltName: Full=FTS and Hook-interacting protein like {ECO:0000303|PubMed:32073997};
DE Short=FHIP-L {ECO:0000303|PubMed:32073997};
GN Name=FHIP1A {ECO:0000312|HGNC:HGNC:34237}; Synonyms=FAM160A1;
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 GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-794.
RC TISSUE=Skin;
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 FUNCTION, AND INTERACTION WITH AKTIP.
RX PubMed=32073997; DOI=10.1091/mbc.e19-11-0658;
RA Mattera R., Williamson C.D., Ren X., Bonifacino J.S.;
RT "The FTS-Hook-FHIP (FHF) complex interacts with AP-4 to mediate perinuclear
RT distribution of AP-4 and its cargo ATG9A.";
RL Mol. Biol. Cell 31:963-979(2020).
RN [5]
RP VARIANT CYS-943.
RX PubMed=30420729; DOI=10.1038/s41408-018-0149-5;
RA Chan J.Y., Ng A.Y.J., Cheng C.L., Nairismaegi M.L., Venkatesh B.,
RA Cheah D.M.Z., Li S.T., Chan S.H., Ngeow J., Laurensia Y., Lim J.Q.,
RA Pang J.W.L., Nagarajan S., Song T., Chia B., Tan J., Huang D., Goh Y.T.,
RA Poon E., Somasundaram N., Tao M., Quek R.H.H., Farid M., Khor C.C.,
RA Bei J.X., Tan S.Y., Lim S.T., Ong C.K., Tang T.;
RT "Whole exome sequencing identifies recessive germline mutations in FAM160A1
RT in familial NK/T cell lymphoma.";
RL Blood Cancer J. 8:111-111(2018).
CC -!- FUNCTION: Probable component of the FTS/Hook/FHIP complex (FHF complex)
CC (PubMed:32073997). FHF complex promotes the distribution of AP-4
CC complex to the perinuclear area of the cell (PubMed:32073997).
CC {ECO:0000269|PubMed:32073997}.
CC -!- SUBUNIT: May be a component of the FTS/Hook/FHIP complex (FHF complex),
CC composed of AKTIP/FTS, FHIP1B, and one or more members of the Hook
CC family of proteins HOOK1, HOOK2, and HOOK3. May interact directly with
CC AKTIP/FTS. {ECO:0000269|PubMed:32073997}.
CC -!- SIMILARITY: Belongs to the FHIP family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH14937.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH14937.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=BAC86147.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC86147.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
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DR EMBL; AC092611; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC097455; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK125363; BAC86147.1; ALT_SEQ; mRNA.
DR EMBL; BC014937; AAH14937.1; ALT_SEQ; mRNA.
DR CCDS; CCDS47146.1; -.
DR RefSeq; NP_001103447.1; NM_001109977.2.
DR RefSeq; NP_001335623.1; NM_001348694.1.
DR RefSeq; XP_005263256.1; XM_005263199.1.
DR RefSeq; XP_011530522.1; XM_011532220.1.
DR RefSeq; XP_011530523.1; XM_011532221.2.
DR RefSeq; XP_011530525.1; XM_011532223.2.
DR RefSeq; XP_011530526.1; XM_011532224.2.
DR AlphaFoldDB; Q05DH4; -.
DR BioGRID; 610225; 15.
DR IntAct; Q05DH4; 4.
DR STRING; 9606.ENSP00000413196; -.
DR iPTMnet; Q05DH4; -.
DR PhosphoSitePlus; Q05DH4; -.
DR BioMuta; FAM160A1; -.
DR DMDM; 189042274; -.
DR EPD; Q05DH4; -.
DR jPOST; Q05DH4; -.
DR MassIVE; Q05DH4; -.
DR MaxQB; Q05DH4; -.
DR PaxDb; Q05DH4; -.
DR PeptideAtlas; Q05DH4; -.
DR PRIDE; Q05DH4; -.
DR ProteomicsDB; 58407; -.
DR Antibodypedia; 48311; 12 antibodies from 7 providers.
DR DNASU; 729830; -.
DR Ensembl; ENST00000435205.6; ENSP00000413196.1; ENSG00000164142.16.
DR Ensembl; ENST00000505231.1; ENSP00000421580.1; ENSG00000164142.16.
DR GeneID; 729830; -.
DR KEGG; hsa:729830; -.
DR MANE-Select; ENST00000435205.6; ENSP00000413196.1; NM_001109977.3; NP_001103447.1.
DR UCSC; uc003imj.2; human.
DR CTD; 729830; -.
DR DisGeNET; 729830; -.
DR GeneCards; FHIP1A; -.
DR HGNC; HGNC:34237; FHIP1A.
DR HPA; ENSG00000164142; Tissue enhanced (choroid plexus, skeletal muscle).
DR neXtProt; NX_Q05DH4; -.
DR OpenTargets; ENSG00000164142; -.
DR VEuPathDB; HostDB:ENSG00000164142; -.
DR eggNOG; KOG3695; Eukaryota.
DR GeneTree; ENSGT00950000182936; -.
DR HOGENOM; CLU_007807_0_0_1; -.
DR InParanoid; Q05DH4; -.
DR OMA; RMPSLVQ; -.
DR OrthoDB; 141539at2759; -.
DR PhylomeDB; Q05DH4; -.
DR TreeFam; TF313941; -.
DR PathwayCommons; Q05DH4; -.
DR SignaLink; Q05DH4; -.
DR BioGRID-ORCS; 729830; 11 hits in 1065 CRISPR screens.
DR ChiTaRS; FAM160A1; human.
DR GenomeRNAi; 729830; -.
DR Pharos; Q05DH4; Tdark.
DR PRO; PR:Q05DH4; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q05DH4; protein.
DR Bgee; ENSG00000164142; Expressed in buccal mucosa cell and 160 other tissues.
DR ExpressionAtlas; Q05DH4; baseline and differential.
DR Genevisible; Q05DH4; HS.
DR GO; GO:1905719; P:protein localization to perinuclear region of cytoplasm; IMP:UniProtKB.
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 Reference proteome.
FT CHAIN 1..1040
FT /note="FHF complex subunit HOOK interacting protein 1A"
FT /id="PRO_0000319578"
FT REGION 555..613
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 653..746
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 769..808
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 565..579
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 674..691
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 692..722
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 731..745
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 782..803
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 943
FT /note="R -> C (found in siblings with familial natural-
FT killer/T-cell lymphoma; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:30420729"
FT /id="VAR_084431"
SQ SEQUENCE 1040 AA; 116621 MW; 1B7A936DB0CAAFBD CRC64;
MMSSVSTESK LQQAVSLQGV DPETCMIVFK NHWAQVVKIL EKHDPLKNTQ AKYGSIPPDE
ASAVQNYVEH MLFLLIEEQA KDAAMGPILE FVVSENIMEK LFLWSLRREF TDETKIEQLK
MYEMLVTQSH QPLLHHKPIL KPLMMLLSSC SGTTTPTVEE KLVVLLNQLC SILAKDPSIL
ELFFHTSEDQ GAANFLIFSL LIPFIHREGS VGQQARDALL FIMSLSAENT MVAHHIVENT
YFCPVLATGL SGLYSSLPTK LEEKGEEWHC LLKDDWLLLP SLVQFMNSLE FCNAVIQVAH
PLIRNQLVNY IYNGFLVPVL APALHKVTVE EVMTTTAYLD LFLRSISEPA LLEIFLRFIL
LHQHENVHIL DTLTSRINTP FRLCVVSLAL FRTLIGLHCE DVMLQLVLRY LIPCNHMMLS
QRWAVKERDC YSVSAAKLLA LTPVCCSSGI TLTLGNQERD YILWSKCMHD TSGPVERPFP
EAFSESACIV EYGKALDISY LQYLWEAHTN ILRCMRDCRV WSALYDGDSP DPEMFLQSLT
EEGSVSSACP VFGLPQQLPR KTGPQLAPRK DKSQTELEWD DSYDTGISSG ADVGSPGPYD
DLEVSGPPAP IDPPKHIQEM KKNALLLFKG SYIEESDFQD DVMVYRLCAE KDSEDMKDSQ
EEAARPPAEA QAEVQSVPIN NGPLLSTQPE TDSEEEWNRD NSDPFHSEPK EPKQEREPEA
APESNSELAS PAPEAEHSSN LTAAHPESEE LIAQYDQIIK ELDSGAEGLM EQNYPTPDPL
LLTKEEEGKE ESKGEKEKEG KKELEDEEDD FDSFIAEMPA VETVPSPFVG RDEAAFASRH
PVRTQSTPFT GPFISVVLSK LENMLENSLH VNLLLIGIIT QLASYPQPLL RSFLLNTNMV
FQPSVRSLYQ VLASVKNKIE QFASVERDFP GLLIQAQQYL LFRVDMSDMT PAALTKDPIQ
EASRTGSGKN LLDGPPRVLQ PFLTHRTKVA EAPPNLPLPV RNPMLAAALF PEFLKELAAL
AQEHSILCYK ILGDFEDSCC
