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Protein

Protein Hook homolog 1

Gene

HOOK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton (By similarity). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex) (PubMed:18799622).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

  • cytoplasmic microtubule organization Source: GO_Central
  • cytoskeleton-dependent intracellular transport Source: GO_Central
  • early endosome to late endosome transport Source: UniProtKB
  • endosome organization Source: UniProtKB
  • endosome to lysosome transport Source: UniProtKB
  • lysosome organization Source: UniProtKB
  • multicellular organism development Source: UniProtKB-KW
  • protein transport Source: UniProtKB-KW
  • spermatid development Source: Ensembl

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Protein transport, Spermatogenesis, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Protein Hook homolog 1
Short name:
h-hook1
Short name:
hHK1
Gene namesi
Name:HOOK1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:19884. HOOK1.

Subcellular locationi

  • Cytoplasm By similarity
  • Cytoplasmcytoskeleton 1 Publication

  • Note: Localizes to punctate cytoplasmic foci which do not appear to overlap with early or late endosomes, the endoplasmic reticulum, multivesicular bodies (MVBs), lysosomes, or mitochondria (By similarity). Often found in close association with microtubules (By similarity). Does not associate with the Golgi complex. During spermiogenesis, it localizes to the manchette in spermatids from steps 8-10. It is also present between the microtubule manchette and the nucleus. During manchette elongation, it is preferentially localized to the nuclear ring of the manchette, whereas the strong localization to the manchette decreases. In more mature spermatids, while the manchette migrates posteriorly, it localizes to punctuates spots. At later stages of spermatid differentiation, the punctuate expression pattern is found at both the attachment site and the proximal end of the elongated manchette. In contrast, it is not present in mature spermatozoa (By similarity).By similarity

GO - Cellular componenti

  • centrosome Source: GO_Central
  • cytosol Source: GOC
  • FHF complex Source: UniProtKB
  • microtubule Source: UniProtKB-KW

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi661 – 662EE → AA: Abrogates interaction with AKTIP, VPS16, VPS18, VPS39 and VPS41, but does not affect interaction with HOOK2 or HOOK3; when associated with 669-A-A-670. 1 Publication2
Mutagenesisi669 – 670WY → AA: Abrogates interaction with AKTIP, VPS16, VPS18, VPS39 and VPS41, but does not affect interaction with HOOK2 or HOOK3; when associated with 661-A-A-662. 1 Publication2

Organism-specific databases

DisGeNETi51361.
OpenTargetsiENSG00000134709.
PharmGKBiPA134945565.

Polymorphism and mutation databases

BioMutaiHOOK1.
DMDMi41688595.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002191921 – 728Protein Hook homolog 1Add BLAST728

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei235PhosphoserineCombined sources1
Modified residuei699PhosphothreonineCombined sources1
Modified residuei719PhosphoserineCombined sources1
Modified residuei727PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiQ9UJC3.
PeptideAtlasiQ9UJC3.
PRIDEiQ9UJC3.

PTM databases

iPTMnetiQ9UJC3.
PhosphoSitePlusiQ9UJC3.

Expressioni

Gene expression databases

BgeeiENSG00000134709.
CleanExiHS_HOOK1.
ExpressionAtlasiQ9UJC3. baseline and differential.
GenevisibleiQ9UJC3. HS.

Organism-specific databases

HPAiHPA018537.
HPA018820.

Interactioni

Subunit structurei

Self-associates (PubMed:18799622). Component of the FTS/Hook/FHIP complex (FHF complex), composed of AKTIP/FTS, FAM160A2, and one or more members of the Hook family of proteins HOOK1, HOOK2, and HOOK3 (PubMed:18799622). May interact directly with AKTIP/FTS, HOOK2 and HOOK3 (PubMed:18799622). Associates with several subunits of the homotypic vesicular sorting complex (the HOPS complex) including VPS16, VPS18, VPS39 and VPS41; these interactions may be indirect (PubMed:18799622). Interacts with microtubules (PubMed:11238449). Interacts with CCDC181 (By similarity).By similarity2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119496. 32 interactors.
IntActiQ9UJC3. 27 interactors.
MINTiMINT-5006697.
STRINGi9606.ENSP00000360252.

Structurei

3D structure databases

ProteinModelPortaliQ9UJC3.
SMRiQ9UJC3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 555Sufficient for interaction with microtubulesAdd BLAST555
Regioni657 – 728Sufficient for interaction with AKTIP and VPS181 PublicationAdd BLAST72

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili169 – 434Sequence analysisAdd BLAST266
Coiled coili477 – 658Sequence analysisAdd BLAST182

Sequence similaritiesi

Belongs to the hook family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IG1M. Eukaryota.
ENOG410XQ3G. LUCA.
GeneTreeiENSGT00690000101702.
HOGENOMiHOG000199504.
HOVERGENiHBG051920.
InParanoidiQ9UJC3.
KOiK16612.
OMAiNTMVAKK.
OrthoDBiEOG091G06O9.
PhylomeDBiQ9UJC3.
TreeFamiTF320231.

Family and domain databases

InterProiView protein in InterPro
IPR008636. Hook-related_fam.
PANTHERiPTHR18947. PTHR18947. 1 hit.
PfamiView protein in Pfam
PF05622. HOOK. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UJC3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEETQPPPQP KLPLCDSLMI WLQTFNTASP CQDVKQLTSG VAMAQVLHQI
60 70 80 90 100
DAAWFNESWL SRIKEDVGDN WRIKASNVKK VLQGIMSYYH EFLGQQISEA
110 120 130 140 150
LIPDLNQITE CSDPVELGRL LQLILGCAIN CEKKQEHIQN IMTLEESVQH
160 170 180 190 200
VVMTAIQELM SKEILSSPPN DAVGELEQQL KRALEELQEA LAEKEELRQR
210 220 230 240 250
CEELDMQVTT LQDEKNSLVS ENEMMNEKLD QLDGSFDDPN TVVAKKYFHA
260 270 280 290 300
QLQLEQLQEE NFRLEAAKDD YRVHCEELEK QLIEFQHRND ELTSLAEETR
310 320 330 340 350
ALKDEIDVLR ATSDKANKLE STVEIYRQKL QDLNDLRKQV KTLQETNMMY
360 370 380 390 400
MHNTVSLEEE LKKANAARTQ LETYKRQVQD LHVKLSSESK RADTLAFEMK
410 420 430 440 450
RLEEKHEALL KEKERLIEQR DTLKETNEEL RCSQVQQDHL NQTDASATKS
460 470 480 490 500
YENLAAEIMP VEYREVFIRL QHENKMLRLQ QEGSENERIE ELQEQLEQKH
510 520 530 540 550
RKMNELETEQ RLSKERIREL QQQIEDLQKS LQEQGSKSEG ESSSKLKQKL
560 570 580 590 600
EAHMEKLTEV HEELQKKQEL IEDLQPDINQ NVQKINELEA ALQKKDEDMK
610 620 630 640 650
AMEERYKMYL EKARNVIKTL DPKLNPASAE IMLLRKQLAE KERRIEILES
660 670 680 690 700
ECKVAKFRDY EEKLIVSAWY NKSLAFQKLG MESRLVSGGG ACSDTGACTP
710 720
ARSFLAQQRH ITNTRRNLSV KVPATTSD
Length:728
Mass (Da):84,648
Last modified:February 2, 2004 - v2
Checksum:iE35CA91F2BB89B3E
GO
Isoform 2 (identifier: Q9UJC3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: Missing.

Note: No experimental confirmation available.
Show »
Length:686
Mass (Da):80,021
Checksum:iF4896D49D819EDA9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035709433S → L in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_077930689G → S1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0562261 – 42Missing in isoform 2. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF044923 mRNA. Translation: AAC09298.1.
AK292314 mRNA. Translation: BAF85003.1.
AK301768 mRNA. Translation: BAG63227.1.
AL035416, AC113175 Genomic DNA. Translation: CAI22779.1.
CH471059 Genomic DNA. Translation: EAX06615.1.
BC011621 mRNA. Translation: AAH11621.1.
CCDSiCCDS612.1. [Q9UJC3-1]
RefSeqiNP_056972.1. NM_015888.4. [Q9UJC3-1]
UniGeneiHs.378836.

Genome annotation databases

EnsembliENST00000371208; ENSP00000360252; ENSG00000134709. [Q9UJC3-1]
GeneIDi51361.
KEGGihsa:51361.
UCSCiuc001czo.3. human. [Q9UJC3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiHOOK1_HUMAN
AccessioniPrimary (citable) accession number: Q9UJC3
Secondary accession number(s): A8K8E9
, A8MU44, B4DX15, O60561, Q5TG44
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: February 2, 2004
Last modified: June 7, 2017
This is version 138 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families