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Q4G0P3

- HYDIN_HUMAN

UniProt

Q4G0P3 - HYDIN_HUMAN

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Protein
Hydrocephalus-inducing protein homolog
Gene
HYDIN, HYDIN1, KIAA1864
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Required for ciliary motility By similarity.

Names & Taxonomyi

Protein namesi
Recommended name:
Hydrocephalus-inducing protein homolog
Gene namesi
Name:HYDIN
Synonyms:HYDIN1, KIAA1864
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:19368. HYDIN.

Subcellular locationi

Cell projectioncilium Inferred

GO - Cellular componenti

  1. cilium Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 5 (CILD5) [MIM:608647]: An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

MIMi608647. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA134866950.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 51215121Hydrocephalus-inducing protein homolog
PRO_0000284844Add
BLAST

Proteomic databases

MaxQBiQ4G0P3.
PaxDbiQ4G0P3.
PRIDEiQ4G0P3.

PTM databases

PhosphoSiteiQ4G0P3.

Expressioni

Gene expression databases

ArrayExpressiQ4G0P3.
BgeeiQ4G0P3.
CleanExiHS_HYDIN.
GenevestigatoriQ4G0P3.

Organism-specific databases

HPAiHPA046282.

Interactioni

Protein-protein interaction databases

BioGridi120142. 2 interactions.
IntActiQ4G0P3. 1 interaction.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi204 – 2063
Beta strandi210 – 2156
Beta strandi217 – 2248
Beta strandi227 – 2293
Beta strandi231 – 2366
Beta strandi241 – 25010
Beta strandi255 – 2628
Beta strandi265 – 2684
Beta strandi275 – 2817
Beta strandi460 – 4645
Beta strandi466 – 47611
Beta strandi479 – 4879
Beta strandi493 – 4975
Helixi503 – 5075
Beta strandi509 – 5179
Beta strandi524 – 5296
Beta strandi535 – 5417
Beta strandi543 – 5475
Beta strandi554 – 5618

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2E6JNMR-A459-563[»]
2YS4NMR-A182-296[»]
ProteinModelPortaliQ4G0P3.
SMRiQ4G0P3. Positions 182-296, 458-563.

Miscellaneous databases

EvolutionaryTraceiQ4G0P3.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1908 – 193326 Reviewed prediction
Add
BLAST
Coiled coili2267 – 236599 Reviewed prediction
Add
BLAST
Coiled coili2504 – 254946 Reviewed prediction
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1975 – 19817Poly-Glu

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG44977.
HOGENOMiHOG000171495.
HOVERGENiHBG099337.
InParanoidiQ4G0P3.
KOiK17570.
OMAiHFPVSFH.
OrthoDBiEOG7TMZR1.
PhylomeDBiQ4G0P3.
TreeFamiTF340616.

Family and domain databases

Gene3Di2.60.40.360. 2 hits.
3.40.50.300. 2 hits.
InterProiIPR027417. P-loop_NTPase.
IPR008962. PapD-like.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q4G0P3-1) [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

MTSRRLEESM GAVQMGLVNM FKGFQSKVLP PLSPKVVTEE EVNRMLTPSE     50
FLKEMSLTTE QRLAKTRLMC RPQIIELLDM GETTHQKFSG IDLDQALFQP 100
FPSEIIFQNY TPCEVYEVPL ILRNNDKIPR LVKVVEESSP YFKVISPKDI 150
GHKVAPGVPS IFRILFTPEE NKDYAHTLTC VTEREKFIVP IKARGARAIL 200
DFPDKLNFST CPVKYSTQKI LLVRNIGNKN AVFHIKTCRP FSIEPAIGTL 250
NVGESMQLEV EFEPQSVGDH SGRLIVCYDT GEKVFVSLYG AAIDMNIRLD 300
KNSLTIEKTY ISLANQRTIT IHNRSNIIAH FLWKVFATQQ EEDREKYRAC 350
DDLIKEEKDE TDEFFEECIT DPLLREHLSV LSRTFANQRR LVQGDSKLFF 400
NNVFTVEPLE GDVWPNSSAE ITVYFNPLEA KLYQQTIYCD ILGREIRLPL 450
RIKGEGMGPK IHFNFELLDI GKVFTGSAHC YEAILYNKGS IDALFNMTPP 500
TSALGACFVF SPKEGIIEPS GVQAIQISFS STILGNFEEE FLVNVNGSPE 550
PVKLTIRGCV IGPTFHFNVP ALHFGDVSFG FPHTLICSLN NTSLIPMTYK 600
LRIPGDGLGH KSISYCEQHV DYKRPSWTKE EISSMKPKEF TISPDCGTIR 650
PQGFAAIRVT LCSNTVQKYE LALVVDVEGI GEEVLALLIT ARCVVPALHL 700
VNTEVDFGHC FLKYPYEKTL QLANQDDLPG FYEVQPQVCE EVPTVLFSSP 750
TPSGVISPSS TIHIPLVLET QVTGEHRSTV YISIFGSQDP PLVCHLKSAG 800
EGPVIYVHPN QVDFGNIYVL KDSSRILNLC NQSFIPAFFQ AHMAHKKSLW 850
TIEPNEGMVP PETDVQLALT ANLNDTLTFK DCVILDIENS STYRIPVQAS 900
GTGSTIVSDK PFAPELNLGA HFSLDTHYYH FKLINKGRRI QQLFWMNDSF 950
RPQAKLSKKG RVKKGHAHVQ PQPSGSQEPR DPQSPVFHLH PASMELYPGQ 1000
AIDVILEGYS ATPRIVKEKL VCHAIIGAQK GKSLVMAVNI TCEFVAPLIQ 1050
LSTKQLIYRL EKKPNSILKP DYQPLAIKNI STLPVNLLLS TSGPFFICET 1100
DKSLLPATPE PIKLEIDEEK NLLIKFDPSY RNDLNNWVAE EILAIKYVEH 1150
PQIDSLDLRG EVHYPNLSFE TKELDFGCIL NDTELIRYVT ITNCSPLVVK 1200
FRWFFLVNDE ENQIRFVTLP KKPYSAPVSQ MESIPATSEA ASPPAILVTV 1250
ESPEMDLNDF VKTVLVDEDA RPEEKELRKT KASSVISDEI KISSTEIERI 1300
YSSQSQVEDQ ESLQTCEQNE MLSIGIEEVF DILPLFGVLQ PHSSHQISFT 1350
FYGHANIIAQ AKALCEVEEG PTYEITLKGE ASLVNYSFDT KDIHYGLQLF 1400
DHVTEREITL TNMGKVGFEF KVLTDHQSSP DNLLPGVPLI LPVSGFISSH 1450
QEQVLKVYYL PGVPEVFKRS FQIQIAHLDP ENITLSGEGI FPQICLDLPR 1500
NLTANEKYEM FLNQARKNTD KEYNKCEMLD HFDIITEEVP EDEPAEVSAH 1550
LQMEVERLIV QSYVLEHQKT TTPDPMDDPC FSHRSRRKLA KIQLPEYILD 1600
FGYIILGEVR THIIKIINTS HFPVSFHADK RVLHETGFST ELDRVKNLPH 1650
CETEIFEVRF DPQGANLPVG SKEVILPIKV VGGPTVHICL QAKVTIPTMT 1700
LSRGKVDFAT IQCGQCLVET IQLSNHLQVP CEWFVQSQKP VDKLEKHMPK 1750
YLRQKLRAEL KPKTRIFEIQ PISGVLDPGE KSNVQVKFMP KEEKFYSQTL 1800
VFQIAQSAQK LTLLARGQGL EPRLEFSPSV LDLGPLLLCA PGDEAEVIVK 1850
NPCNFPIEFY SLEFDQQYLI EEKILRKLKG YDSYNTLLLP PRNPGEKLPP 1900
ELYEYFKEIK KSKEEQMRAK YLENLAQENE EEDITSSDQG TSNSTKRTSL 1950
SRGISVTSNL EEWHALLVES KTYLEEEEDE ESLEKIIFQT DKLQSIDSHS 2000
MEEVGEVENN PVSKAIARHL GIDISAEGRL AKNRKGIAII IHGTPLSGKS 2050
ANAVSVAKYY NAACLSIDSI VLEAVANSNN IPGIRARELC IRAAIEQSVK 2100
EGEEAAQEAA VGQNVIGQGR LSTDTLGKLA SEMTLVAPEI KPGKSVRGSV 2150
VITKSKADSH GSGSQKQHHS HQSETPQISS SPLPPGPIHR WLSVSPSVGG 2200
ETGLMSCVLP DELLVQILAE RIQLSDCYRG VVFDGLDTLF AQNAAAALLC 2250
LLKAIGSREH IYILNMAQDY AAMKAQEKAK KEQEERKHKG ALEKEKERLQ 2300
NMDEEEYDAL TEEEKLTFDR GIQQALRERK KREQERLAKE MQEKKLQQEL 2350
ERQKEEDELK RRVKKGKQGP IKEEPPMKKS QAANKQVPPL TKVDVKMETI 2400
ERKISVREQT MSEKEELNKK KRNMGDVSMH GLPLVQDQED SEGDNSKDPD 2450
KQLAPKFKTY ELTLKDVQNI LMYWDRKQGV QLPPAGMEEA PHEPDDQRQV 2500
PLGGRRGRKD RERERLEKER TEKERLEREK AERERLEKLR ALEERSDWEG 2550
EGEEDHEGKK EKDLGVPFLD IQTPDFEGLS WKQALESDKL PKGEQILDIL 2600
GLGASGPPIP PPALFSIVSY PVKRPPLTMT DDLEHFVFVI PPSEDISLDE 2650
KKEMEIESDF LATTNTTKAQ EEQTSSSKGG KQKMKEKIDQ VFEIQKDKRH 2700
MALNRKVLSG EPAGTISQLS DTDLDNFNGQ HSQEKFTRLN HFRWIVPANG 2750
EVTLQVHFSS DEFGNFDQTF NFEILGTCCQ YQLYCRGICT YPYICQDPKV 2800
VFPQRKMDMK TNEVIFKKYV MSTETYYFGP LLCGKSRDKY KSSLFPGNME 2850
TLTILNTSLM VVEASFYFQN DVKANTYFLE PNTMVLKPNE KQILNVWAYP 2900
TSVGVFEDSI VCCINDNPEP AIFQLSCQGI RPELELEPRQ LHFDRLLLHR 2950
QESRVVLLRN VTLLPVAWRI TSLEHLGDDF TVSLMQGTIP PEAEYGLHLY 3000
FQPTKPVNIK KAIRLEVLDA ENLLGVVQIE NIMVFAEAYD IALDITFPKG 3050
AEGGLDFGIV RVTEEAKQPL QLKNRGKYEI AFSFSVDSVG ISTPNINSMI 3100
SVQPKKGSLT PTEKPTNVQV FFHAKKEVKI EHQPVLRCQI IEPNISEGGE 3150
IIASIPIKFS ANAVYSKYNI TPSSVINFGA LICGTRKSTT FTIENQGVTD 3200
FKFALYKLTG ESPIHQKKAA SHVRHARSRE SESFYKTGSS RAAKFSDTIQ 3250
KEVTTTGQAR FAHGMFTVYP GFGSIPSGGQ QVINVDCVAD AMGKCEEFIA 3300
IDISGRDPAV HPAGILYTLL AEACLPAFVT ENNALIFEEH QICTSANLHH 3350
ILQTIESGGL FVEDENKFIF CNVLVGRQAK ARFKISNVGK ITCDVNIVVR 3400
PISNKPFARI VDIFEVEPSK MCIASHSHAF ATVSFTPQIM QNYQCIFEAT 3450
LDGLPSTLAK SRGLVFDIAG EGNLPRVTVV RPVLHNQYGN PLLLFKRLLL 3500
GHSEKLPLIL KNNGVLPAQL HVDLQDELGV FSLKGRPTTA YIYITEENKP 3550
HVKAKKAHTA SLVVSPGDTA EFDVVFHSQK VGRMRGIIHL SVINNQYEET 3600
SIHMVGEGYE DDITLDNIHG LVAPTSQEDI SISEFTEIIE DNDMEDLVAA 3650
ALVDHIQFGD CHIGHSYNAS FTVTNHSQVN LIRFEWPVSA TIAFSPQMGH 3700
LHPGCAKDIV VTMKSDVPIN LKNMRIRCKL SRIMFQLPAD QVPDWDDRMH 3750
TVKWVDVPRN MPGTFTTKRK VIETDPEPAH SVLEENYQEL QLQISANVDF 3800
ASYHCQARDV RFKETLVYQT RVFEFDVINS GRVQLEFSWV SEDTSKAVSF 3850
AKPDHQGSAQ KDQLSQGTMH TGSTLDSTMD HWAEGSPQPF SVEPSSGIVP 3900
VGKIQKFKVK FSPLDIGDFE SNLFCQIPNL PPGEQGPVLV AKGRSTLPIC 3950
HFDLKDSDYI SGHQRNPELR GSSGGALDPN TRVIEFTTVG IGGKNLRTFT 4000
ILNPTNSTYS FCWISEEIES LQNPAAFTCL TEKGFIHPEK KAEIVFQFTP 4050
FHLGITESSW TFLIPEHNIT VPFLLVGKTT EPLISLNKSH LNFSSLLIGR 4100
EARETVQIIN KEEQGFDFSF QDNSRYSEGF SNSLLVCPME GWIPPLSRFP 4150
IDIFFTPKQE GDVNFNLICN VEKKVHPVTL NVKAEGYTMN VEIKCKDRTG 4200
SITLLTPNQT NIINFYEVEL NECVQCEFNF INTGKFTFSF QAQLCGSKTL 4250
LQYLEFSPID STVDVGQSVH ATLSFQPLKK CVLTDLELII KISHGPTFMC 4300
NISGCAVSPA IHFSFTSYNF GTCFIYQAGM PPYKQTLVIT NKEETPMSID 4350
CLYTNTTHLE VNSRVDVVKP GNTLEIPITF YPRESINYQE LIPFEINGLS 4400
QQTVEIKGKG TKMKILVLDP ANRIVKLGAV LPGQVVKRTV SIMNNSLAQL 4450
TFNQSILFTI PELQEPKVLT LAPFHNITLK PKEVCKLEVI FAPKKRVPPF 4500
SEEVFMECMG LLRPLFLLSG CCQALEISLD QEHIPFGPVV YQTQATRRIL 4550
MMNTGDVGAR FKWDIKKFEP HFSISPEEGY ITSGMEVSFE VTYHPTEVGK 4600
ESLCKNILCY IQGGSPLSLT LSGVCVGPPA VKEVVNFTCQ VRSKHTQTIL 4650
LSNRTNQTWN LHPIFEGEHW EGPEFITLEA HQQNKPYEIT YRPRTMNLEN 4700
RKHQGTLFFP LPDGTGWLYA LHGTSELPKA VANIYREVPC KTPYTELLPI 4750
TNWLNKPQRF RVIVEILKPE KPDLSITMKG LDYIDVLSGS KKDYKLNFFS 4800
HKEGTYAAKV IFRNEVTNEF LYYNVSFRVI PSGIIKTIEM VTPVRQVASA 4850
SIKLENPLPY SVTFSTECRM PDIALPSQFV VPANSEGTFS FEFQPLKAGE 4900
TFGRLTLHNT DLGYYQYELY LKATPALPEK PVHFQTVLGS SQIILVKFIN 4950
YTRQRTEYYC RTDCTDFHAE KLINAAPGGQ GGTEASVEVL FEPSHLGETK 5000
GILILSSLAG GEYIIPLFGM ALPPKPQGPF SIRAGYSIII PFKNVFYHMV 5050
TFSIIVDNPA FTIRAGESVR PKKINNITVS FEGNPSGSKT PITTKLTVSC 5100
PPGEGSETGV KWVYYLKGIT L 5121
Length:5,121
Mass (Da):575,892
Last modified:April 5, 2011 - v3
Checksum:i47FB2A11C7E50A4F
GO
Isoform 2 (identifier: Q4G0P3-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3823: Missing.
     3824-3824: E → M
     4887-5121: GTFSFEFQPL...WVYYLKGITL → RWGLTASSRLECSGMIIAPCSLKLLQSRPPPASAS

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:1,098
Mass (Da):123,076
Checksum:i253E0EF252881F8B
GO
Isoform 4 (identifier: Q4G0P3-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1015-1017: IVK → VRG
     1018-5121: Missing.

Show »
Length:1,017
Mass (Da):114,208
Checksum:iB4AB03CA5302D5BB
GO
Isoform 5 (identifier: Q4G0P3-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     693-708: CVVPALHLVNTEVDFG → YCSPACSSPESPPSLQ
     709-5121: Missing.

Show »
Length:708
Mass (Da):79,722
Checksum:i06C5B2713F7D7470
GO
Isoform 6 (identifier: Q4G0P3-8) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MESAGGFKLGMEPLSGGGVCEKKKLLKM
     923-923: S → R
     924-5121: Missing.

Note: No experimental confirmation available.

Show »
Length:950
Mass (Da):106,269
Checksum:i7236F8324AD317AF
GO
Isoform 7 (identifier: Q4G0P3-10) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MESAGGFKLGEKKKLLKM
     923-923: S → R
     924-5121: Missing.

Show »
Length:940
Mass (Da):105,338
Checksum:i5AE6895A825BACF8
GO

Sequence cautioni

The sequence BAB15527.1 differs from that shown. Reason: Frameshift at position 4804.
The sequence AAH28351.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti451 – 4511R → P.
Corresponds to variant rs7200485 [ dbSNP | Ensembl ].
VAR_031837
Natural varianti584 – 5841T → N.
Corresponds to variant rs7200126 [ dbSNP | Ensembl ].
VAR_031838
Natural varianti690 – 6901T → A.
Corresponds to variant rs10744982 [ dbSNP | Ensembl ].
VAR_031839
Natural varianti724 – 7241N → D.
Corresponds to variant rs3817211 [ dbSNP | Ensembl ].
VAR_031840
Natural varianti1077 – 10771I → V.
Corresponds to variant rs6416709 [ dbSNP | Ensembl ].
VAR_059667
Natural varianti1228 – 12281V → L.
Corresponds to variant rs1774513 [ dbSNP | Ensembl ].
VAR_059668
Natural varianti1534 – 15341I → V.
Corresponds to variant rs1774303 [ dbSNP | Ensembl ].
VAR_059669
Natural varianti1718 – 17181V → M.
Corresponds to variant rs783762 [ dbSNP | Ensembl ].
VAR_051036
Natural varianti1892 – 18921R → H.
Corresponds to variant rs783732 [ dbSNP | Ensembl ].
VAR_051037
Natural varianti1952 – 19521R → Q.
Corresponds to variant rs17321570 [ dbSNP | Ensembl ].
VAR_051038
Natural varianti2087 – 20871R → C.
Corresponds to variant rs1774541 [ dbSNP | Ensembl ].
VAR_059670
Natural varianti2099 – 20991V → M.
Corresponds to variant rs1798337 [ dbSNP | Ensembl ].
VAR_051039
Natural varianti2242 – 22421Q → R.
Corresponds to variant rs2258307 [ dbSNP | Ensembl ].
VAR_059671
Natural varianti2276 – 22761Q → R.
Corresponds to variant rs1815707 [ dbSNP | Ensembl ].
VAR_051040
Natural varianti2298 – 22981R → G.
Corresponds to variant rs1774360 [ dbSNP | Ensembl ].
VAR_059672
Natural varianti2306 – 23061E → G.
Corresponds to variant rs2502726 [ dbSNP | Ensembl ].
VAR_051041
Natural varianti2445 – 24451N → I.
Corresponds to variant rs1798532 [ dbSNP | Ensembl ].
VAR_051042
Natural varianti2455 – 24551P → Q.
Corresponds to variant rs1798531 [ dbSNP | Ensembl ].
VAR_061666
Natural varianti2502 – 25021L → S.
Corresponds to variant rs1798529 [ dbSNP | Ensembl ].
VAR_051043
Natural varianti2530 – 25301K → E.
Corresponds to variant rs1798528 [ dbSNP | Ensembl ].
VAR_059673
Natural varianti2558 – 25581G → E.
Corresponds to variant rs8044142 [ dbSNP | Ensembl ].
VAR_051044
Natural varianti2570 – 25701D → N.
Corresponds to variant rs8044001 [ dbSNP | Ensembl ].
VAR_059674
Natural varianti2589 – 25891K → R.
Corresponds to variant rs1774395 [ dbSNP | Ensembl ].
VAR_051045
Natural varianti2694 – 26941I → S.
Corresponds to variant rs1774449 [ dbSNP | Ensembl ].
VAR_059675
Natural varianti2932 – 29321P → L.
Corresponds to variant rs11075812 [ dbSNP | Ensembl ].
VAR_051046
Natural varianti2937 – 29371E → K.
Corresponds to variant rs8047935 [ dbSNP | Ensembl ].
VAR_051047
Natural varianti2939 – 29391R → K.
Corresponds to variant rs7188837 [ dbSNP | Ensembl ].
VAR_051048
Natural varianti2994 – 29941E → G.
Corresponds to variant rs12102425 [ dbSNP | Ensembl ].
VAR_051049
Natural varianti3116 – 31161T → R.
Corresponds to variant rs1774423 [ dbSNP | Ensembl ].
VAR_051050
Natural varianti3269 – 32691Y → D.
Corresponds to variant rs7197263 [ dbSNP | Ensembl ].
VAR_051051
Natural varianti3291 – 32911A → P.
Corresponds to variant rs1798440 [ dbSNP | Ensembl ].
VAR_059676
Natural varianti3316 – 33161L → P.
Corresponds to variant rs1774331 [ dbSNP | Ensembl ].
VAR_059677
Natural varianti3739 – 37391A → T.
Corresponds to variant rs1774504 [ dbSNP | Ensembl ].
VAR_059678
Natural varianti3742 – 37421V → I.
Corresponds to variant rs1798413 [ dbSNP | Ensembl ].
VAR_059679
Natural varianti3811 – 38111R → H.
Corresponds to variant rs13338821 [ dbSNP | Ensembl ].
VAR_051052
Natural varianti3840 – 38401V → L.
Corresponds to variant rs1798325 [ dbSNP | Ensembl ].
VAR_059680
Natural varianti3869 – 38691M → R.
Corresponds to variant rs7192347 [ dbSNP | Ensembl ].
VAR_059681
Natural varianti3899 – 38991V → M.
Corresponds to variant rs1626593 [ dbSNP | Ensembl ].
VAR_051053
Natural varianti4005 – 40051T → A.
Corresponds to variant rs1539302 [ dbSNP | Ensembl ].
VAR_059682
Natural varianti4026 – 40261A → T.
Corresponds to variant rs11075798 [ dbSNP | Ensembl ].
VAR_051054
Natural varianti4088 – 40881K → R.
Corresponds to variant rs1774416 [ dbSNP | Ensembl ].
VAR_051055
Natural varianti4160 – 41601E → Q.
Corresponds to variant rs1798314 [ dbSNP | Ensembl ].
VAR_059683
Natural varianti4270 – 42701H → Y.
Corresponds to variant rs1891343 [ dbSNP | Ensembl ].
VAR_051056
Natural varianti4363 – 43631S → C.
Corresponds to variant rs1770434 [ dbSNP | Ensembl ].
VAR_059684
Natural varianti4412 – 44121K → E.
Corresponds to variant rs1774480 [ dbSNP | Ensembl ].
VAR_059685
Natural varianti4520 – 45201G → S.
Corresponds to variant rs2292127 [ dbSNP | Ensembl ].
VAR_051057
Natural varianti4552 – 45521M → L.
Corresponds to variant rs1770442 [ dbSNP | Ensembl ].
VAR_059686
Natural varianti4606 – 46061N → K.
Corresponds to variant rs783898 [ dbSNP | Ensembl ].
VAR_051058
Natural varianti4869 – 48691R → Q.
Corresponds to variant rs2795652 [ dbSNP | Ensembl ].
VAR_059687

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 38233823Missing in isoform 2.
VSP_024684Add
BLAST
Alternative sequencei1 – 11M → MESAGGFKLGMEPLSGGGVC EKKKLLKM in isoform 6.
VSP_042692
Alternative sequencei1 – 11M → MESAGGFKLGEKKKLLKM in isoform 7.
VSP_046818
Alternative sequencei693 – 70816CVVPA…EVDFG → YCSPACSSPESPPSLQ in isoform 5.
VSP_024687Add
BLAST
Alternative sequencei709 – 51214413Missing in isoform 5.
VSP_024688Add
BLAST
Alternative sequencei923 – 9231S → R in isoform 6 and isoform 7.
VSP_042693
Alternative sequencei924 – 51214198Missing in isoform 6 and isoform 7.
VSP_042694Add
BLAST
Alternative sequencei1015 – 10173IVK → VRG in isoform 4.
VSP_024691
Alternative sequencei1018 – 51214104Missing in isoform 4.
VSP_024692Add
BLAST
Alternative sequencei3824 – 38241E → M in isoform 2.
VSP_024697
Alternative sequencei4887 – 5121235GTFSF…KGITL → RWGLTASSRLECSGMIIAPC SLKLLQSRPPPASAS in isoform 2.
VSP_024698Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti299 – 2991L → P in BAB14314. 1 Publication
Sequence conflicti313 – 3131L → M in AAH28351. 1 Publication
Sequence conflicti460 – 4601K → T in BAB14314. 1 Publication
Sequence conflicti532 – 5321T → I in AAH28351. 1 Publication
Sequence conflicti584 – 5841T → I in BAG61096. 1 Publication
Sequence conflicti881 – 8811D → N in BAG61096. 1 Publication
Sequence conflicti3945 – 39451S → N in AAH43273. 1 Publication
Sequence conflicti4663 – 46631P → T in AAH43273. 1 Publication
Sequence conflicti4667 – 46671G → V in BAB15527. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK022933 mRNA. Translation: BAB14314.1.
AK026688 mRNA. Translation: BAB15527.1. Frameshift.
AK299016 mRNA. Translation: BAG61096.1.
AK299348 mRNA. Translation: BAG61346.1.
AC027281 Genomic DNA. No translation available.
AC099495 Genomic DNA. No translation available.
AC138625 Genomic DNA. No translation available.
BC028351 mRNA. Translation: AAH28351.2. Different initiation.
BC043273 mRNA. Translation: AAH43273.1.
AL122038 mRNA. Translation: CAB59178.1.
AL133042 mRNA. Translation: CAB61370.1.
AL137259 mRNA. Translation: CAB70660.1.
CCDSiCCDS10897.1. [Q4G0P3-5]
CCDS56004.1. [Q4G0P3-8]
CCDS56005.1. [Q4G0P3-10]
CCDS59269.1. [Q4G0P3-1]
PIRiT42699.
T46330.
RefSeqiNP_001185471.1. NM_001198542.1. [Q4G0P3-8]
NP_001185472.1. NM_001198543.1. [Q4G0P3-10]
NP_001257903.1. NM_001270974.1. [Q4G0P3-1]
NP_060028.2. NM_017558.4. [Q4G0P3-5]
UniGeneiHs.461229.
Hs.744828.
Hs.745353.

Genome annotation databases

EnsembliENST00000321489; ENSP00000314736; ENSG00000157423. [Q4G0P3-5]
ENST00000393567; ENSP00000377197; ENSG00000157423. [Q4G0P3-1]
ENST00000448691; ENSP00000394826; ENSG00000157423. [Q4G0P3-5]
ENST00000538248; ENSP00000444970; ENSG00000157423. [Q4G0P3-8]
ENST00000541601; ENSP00000437341; ENSG00000157423. [Q4G0P3-10]
GeneIDi54768.
KEGGihsa:54768.
UCSCiuc010cfz.2. human. [Q4G0P3-5]
uc010vmd.2. human. [Q4G0P3-8]
uc031qwy.1. human. [Q4G0P3-1]

Polymorphism databases

DMDMi327478578.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK022933 mRNA. Translation: BAB14314.1 .
AK026688 mRNA. Translation: BAB15527.1 . Frameshift.
AK299016 mRNA. Translation: BAG61096.1 .
AK299348 mRNA. Translation: BAG61346.1 .
AC027281 Genomic DNA. No translation available.
AC099495 Genomic DNA. No translation available.
AC138625 Genomic DNA. No translation available.
BC028351 mRNA. Translation: AAH28351.2 . Different initiation.
BC043273 mRNA. Translation: AAH43273.1 .
AL122038 mRNA. Translation: CAB59178.1 .
AL133042 mRNA. Translation: CAB61370.1 .
AL137259 mRNA. Translation: CAB70660.1 .
CCDSi CCDS10897.1. [Q4G0P3-5 ]
CCDS56004.1. [Q4G0P3-8 ]
CCDS56005.1. [Q4G0P3-10 ]
CCDS59269.1. [Q4G0P3-1 ]
PIRi T42699.
T46330.
RefSeqi NP_001185471.1. NM_001198542.1. [Q4G0P3-8 ]
NP_001185472.1. NM_001198543.1. [Q4G0P3-10 ]
NP_001257903.1. NM_001270974.1. [Q4G0P3-1 ]
NP_060028.2. NM_017558.4. [Q4G0P3-5 ]
UniGenei Hs.461229.
Hs.744828.
Hs.745353.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2E6J NMR - A 459-563 [» ]
2YS4 NMR - A 182-296 [» ]
ProteinModelPortali Q4G0P3.
SMRi Q4G0P3. Positions 182-296, 458-563.
ModBasei Search...

Protein-protein interaction databases

BioGridi 120142. 2 interactions.
IntActi Q4G0P3. 1 interaction.

PTM databases

PhosphoSitei Q4G0P3.

Polymorphism databases

DMDMi 327478578.

Proteomic databases

MaxQBi Q4G0P3.
PaxDbi Q4G0P3.
PRIDEi Q4G0P3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000321489 ; ENSP00000314736 ; ENSG00000157423 . [Q4G0P3-5 ]
ENST00000393567 ; ENSP00000377197 ; ENSG00000157423 . [Q4G0P3-1 ]
ENST00000448691 ; ENSP00000394826 ; ENSG00000157423 . [Q4G0P3-5 ]
ENST00000538248 ; ENSP00000444970 ; ENSG00000157423 . [Q4G0P3-8 ]
ENST00000541601 ; ENSP00000437341 ; ENSG00000157423 . [Q4G0P3-10 ]
GeneIDi 54768.
KEGGi hsa:54768.
UCSCi uc010cfz.2. human. [Q4G0P3-5 ]
uc010vmd.2. human. [Q4G0P3-8 ]
uc031qwy.1. human. [Q4G0P3-1 ]

Organism-specific databases

CTDi 54768.
GeneCardsi GC16M070842.
GeneReviewsi HYDIN.
H-InvDB HIX0021241.
HIX0161592.
HGNCi HGNC:19368. HYDIN.
HPAi HPA046282.
MIMi 608647. phenotype.
610812. gene.
neXtProti NX_Q4G0P3.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA134866950.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG44977.
HOGENOMi HOG000171495.
HOVERGENi HBG099337.
InParanoidi Q4G0P3.
KOi K17570.
OMAi HFPVSFH.
OrthoDBi EOG7TMZR1.
PhylomeDBi Q4G0P3.
TreeFami TF340616.

Miscellaneous databases

EvolutionaryTracei Q4G0P3.
GenomeRNAii 54768.
NextBioi 57417.
PROi Q4G0P3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q4G0P3.
Bgeei Q4G0P3.
CleanExi HS_HYDIN.
Genevestigatori Q4G0P3.

Family and domain databases

Gene3Di 2.60.40.360. 2 hits.
3.40.50.300. 2 hits.
InterProi IPR027417. P-loop_NTPase.
IPR008962. PapD-like.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4; 6 AND 7), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4575-5121 (ISOFORM 1).
    Tissue: Lung and Teratocarcinoma.
  2. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5).
    Tissue: Testis.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 715-5121 (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4141-5121 (ISOFORM 1).
    Tissue: Amygdala and Testis.
  5. Cited for: IDENTIFICATION.
  6. "Hydin seek: finding a function in ciliary motility."
    Smith E.F.
    J. Cell Biol. 176:403-404(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  7. Cited for: INVOLVEMENT IN CILD5.
  8. "Solution structure of the C-terminal PAPD-like domain from human HYDIN protein."
    RIKEN structural genomics initiative (RSGI)
    Submitted (JUL-2007) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 458-563.

Entry informationi

Entry nameiHYDIN_HUMAN
AccessioniPrimary (citable) accession number: Q4G0P3
Secondary accession number(s): A6NC70
, A6NLZ0, B4DQY4, B4DRN4, F5H6V3, Q8N3H8, Q8N3P6, Q8TC08, Q96JG3, Q96SS4, Q9H5U3, Q9H9B8, Q9NTI0, Q9UBE5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 5, 2011
Last modified: July 9, 2014
This is version 88 of the entry and version 3 of the sequence. [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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

External Data

Dasty 3

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