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Q4G0P3 (HYDIN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hydrocephalus-inducing protein homolog
Gene names
Name:HYDIN
Synonyms:HYDIN1, KIAA1864
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length5121 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for ciliary motility By similarity.

Subcellular location

Cell projectioncilium Probable.

Involvement in disease

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. Ref.7

Sequence caution

The sequence AAH28351.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAB15527.1 differs from that shown. Reason: Frameshift at position 4804.

Ontologies

Keywords
   Cellular componentCell projection
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCiliopathy
Primary ciliary dyskinesia
   DomainCoiled coil
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcilium

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q4G0P3-1)

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.
Isoform 2 (identifier: Q4G0P3-2)

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.
Isoform 4 (identifier: Q4G0P3-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1015-1017: IVK → VRG
     1018-5121: Missing.
Isoform 5 (identifier: Q4G0P3-6)

The sequence of this isoform differs from the canonical sequence as follows:
     693-708: CVVPALHLVNTEVDFG → YCSPACSSPESPPSLQ
     709-5121: Missing.
Isoform 6 (identifier: Q4G0P3-8)

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.
Isoform 7 (identifier: Q4G0P3-10)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 51215121Hydrocephalus-inducing protein homolog
PRO_0000284844

Regions

Coiled coil1908 – 193326 Potential
Coiled coil2267 – 236599 Potential
Coiled coil2504 – 254946 Potential
Compositional bias1975 – 19817Poly-Glu

Natural variations

Alternative sequence1 – 38233823Missing in isoform 2.
VSP_024684
Alternative sequence11M → MESAGGFKLGMEPLSGGGVC EKKKLLKM in isoform 6.
VSP_042692
Alternative sequence11M → MESAGGFKLGEKKKLLKM in isoform 7.
VSP_046818
Alternative sequence693 – 70816CVVPA…EVDFG → YCSPACSSPESPPSLQ in isoform 5.
VSP_024687
Alternative sequence709 – 51214413Missing in isoform 5.
VSP_024688
Alternative sequence9231S → R in isoform 6 and isoform 7.
VSP_042693
Alternative sequence924 – 51214198Missing in isoform 6 and isoform 7.
VSP_042694
Alternative sequence1015 – 10173IVK → VRG in isoform 4.
VSP_024691
Alternative sequence1018 – 51214104Missing in isoform 4.
VSP_024692
Alternative sequence38241E → M in isoform 2.
VSP_024697
Alternative sequence4887 – 5121235GTFSF…KGITL → RWGLTASSRLECSGMIIAPC SLKLLQSRPPPASAS in isoform 2.
VSP_024698
Natural variant4511R → P.
Corresponds to variant rs7200485 [ dbSNP | Ensembl ].
VAR_031837
Natural variant5841T → N.
Corresponds to variant rs7200126 [ dbSNP | Ensembl ].
VAR_031838
Natural variant6901T → A.
Corresponds to variant rs10744982 [ dbSNP | Ensembl ].
VAR_031839
Natural variant7241N → D.
Corresponds to variant rs3817211 [ dbSNP | Ensembl ].
VAR_031840
Natural variant10771I → V.
Corresponds to variant rs6416709 [ dbSNP | Ensembl ].
VAR_059667
Natural variant12281V → L.
Corresponds to variant rs1774513 [ dbSNP | Ensembl ].
VAR_059668
Natural variant15341I → V.
Corresponds to variant rs1774303 [ dbSNP | Ensembl ].
VAR_059669
Natural variant17181V → M.
Corresponds to variant rs783762 [ dbSNP | Ensembl ].
VAR_051036
Natural variant18921R → H.
Corresponds to variant rs783732 [ dbSNP | Ensembl ].
VAR_051037
Natural variant19521R → Q.
Corresponds to variant rs17321570 [ dbSNP | Ensembl ].
VAR_051038
Natural variant20871R → C.
Corresponds to variant rs1774541 [ dbSNP | Ensembl ].
VAR_059670
Natural variant20991V → M.
Corresponds to variant rs1798337 [ dbSNP | Ensembl ].
VAR_051039
Natural variant22421Q → R.
Corresponds to variant rs2258307 [ dbSNP | Ensembl ].
VAR_059671
Natural variant22761Q → R.
Corresponds to variant rs1815707 [ dbSNP | Ensembl ].
VAR_051040
Natural variant22981R → G.
Corresponds to variant rs1774360 [ dbSNP | Ensembl ].
VAR_059672
Natural variant23061E → G.
Corresponds to variant rs2502726 [ dbSNP | Ensembl ].
VAR_051041
Natural variant24451N → I.
Corresponds to variant rs1798532 [ dbSNP | Ensembl ].
VAR_051042
Natural variant24551P → Q.
Corresponds to variant rs1798531 [ dbSNP | Ensembl ].
VAR_061666
Natural variant25021L → S.
Corresponds to variant rs1798529 [ dbSNP | Ensembl ].
VAR_051043
Natural variant25301K → E.
Corresponds to variant rs1798528 [ dbSNP | Ensembl ].
VAR_059673
Natural variant25581G → E.
Corresponds to variant rs8044142 [ dbSNP | Ensembl ].
VAR_051044
Natural variant25701D → N.
Corresponds to variant rs8044001 [ dbSNP | Ensembl ].
VAR_059674
Natural variant25891K → R.
Corresponds to variant rs1774395 [ dbSNP | Ensembl ].
VAR_051045
Natural variant26941I → S.
Corresponds to variant rs1774449 [ dbSNP | Ensembl ].
VAR_059675
Natural variant29321P → L.
Corresponds to variant rs11075812 [ dbSNP | Ensembl ].
VAR_051046
Natural variant29371E → K.
Corresponds to variant rs8047935 [ dbSNP | Ensembl ].
VAR_051047
Natural variant29391R → K.
Corresponds to variant rs7188837 [ dbSNP | Ensembl ].
VAR_051048
Natural variant29941E → G.
Corresponds to variant rs12102425 [ dbSNP | Ensembl ].
VAR_051049
Natural variant31161T → R.
Corresponds to variant rs1774423 [ dbSNP | Ensembl ].
VAR_051050
Natural variant32691Y → D.
Corresponds to variant rs7197263 [ dbSNP | Ensembl ].
VAR_051051
Natural variant32911A → P.
Corresponds to variant rs1798440 [ dbSNP | Ensembl ].
VAR_059676
Natural variant33161L → P.
Corresponds to variant rs1774331 [ dbSNP | Ensembl ].
VAR_059677
Natural variant37391A → T.
Corresponds to variant rs1774504 [ dbSNP | Ensembl ].
VAR_059678
Natural variant37421V → I.
Corresponds to variant rs1798413 [ dbSNP | Ensembl ].
VAR_059679
Natural variant38111R → H.
Corresponds to variant rs13338821 [ dbSNP | Ensembl ].
VAR_051052
Natural variant38401V → L.
Corresponds to variant rs1798325 [ dbSNP | Ensembl ].
VAR_059680
Natural variant38691M → R.
Corresponds to variant rs7192347 [ dbSNP | Ensembl ].
VAR_059681
Natural variant38991V → M.
Corresponds to variant rs1626593 [ dbSNP | Ensembl ].
VAR_051053
Natural variant40051T → A.
Corresponds to variant rs1539302 [ dbSNP | Ensembl ].
VAR_059682
Natural variant40261A → T.
Corresponds to variant rs11075798 [ dbSNP | Ensembl ].
VAR_051054
Natural variant40881K → R.
Corresponds to variant rs1774416 [ dbSNP | Ensembl ].
VAR_051055
Natural variant41601E → Q.
Corresponds to variant rs1798314 [ dbSNP | Ensembl ].
VAR_059683
Natural variant42701H → Y.
Corresponds to variant rs1891343 [ dbSNP | Ensembl ].
VAR_051056
Natural variant43631S → C.
Corresponds to variant rs1770434 [ dbSNP | Ensembl ].
VAR_059684
Natural variant44121K → E.
Corresponds to variant rs1774480 [ dbSNP | Ensembl ].
VAR_059685
Natural variant45201G → S.
Corresponds to variant rs2292127 [ dbSNP | Ensembl ].
VAR_051057
Natural variant45521M → L.
Corresponds to variant rs1770442 [ dbSNP | Ensembl ].
VAR_059686
Natural variant46061N → K.
Corresponds to variant rs783898 [ dbSNP | Ensembl ].
VAR_051058
Natural variant48691R → Q.
Corresponds to variant rs2795652 [ dbSNP | Ensembl ].
VAR_059687

Experimental info

Sequence conflict2991L → P in BAB14314. Ref.1
Sequence conflict3131L → M in AAH28351. Ref.3
Sequence conflict4601K → T in BAB14314. Ref.1
Sequence conflict5321T → I in AAH28351. Ref.3
Sequence conflict5841T → I in BAG61096. Ref.1
Sequence conflict8811D → N in BAG61096. Ref.1
Sequence conflict39451S → N in AAH43273. Ref.3
Sequence conflict46631P → T in AAH43273. Ref.3
Sequence conflict46671G → V in BAB15527. Ref.1

Secondary structure

....................................... 5121
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 5, 2011. Version 3.
Checksum: 47FB2A11C7E50A4F

FASTA5,121575,892
        10         20         30         40         50         60 
MTSRRLEESM GAVQMGLVNM FKGFQSKVLP PLSPKVVTEE EVNRMLTPSE FLKEMSLTTE 

        70         80         90        100        110        120 
QRLAKTRLMC RPQIIELLDM GETTHQKFSG IDLDQALFQP FPSEIIFQNY TPCEVYEVPL 

       130        140        150        160        170        180 
ILRNNDKIPR LVKVVEESSP YFKVISPKDI GHKVAPGVPS IFRILFTPEE NKDYAHTLTC 

       190        200        210        220        230        240 
VTEREKFIVP IKARGARAIL DFPDKLNFST CPVKYSTQKI LLVRNIGNKN AVFHIKTCRP 

       250        260        270        280        290        300 
FSIEPAIGTL NVGESMQLEV EFEPQSVGDH SGRLIVCYDT GEKVFVSLYG AAIDMNIRLD 

       310        320        330        340        350        360 
KNSLTIEKTY ISLANQRTIT IHNRSNIIAH FLWKVFATQQ EEDREKYRAC DDLIKEEKDE 

       370        380        390        400        410        420 
TDEFFEECIT DPLLREHLSV LSRTFANQRR LVQGDSKLFF NNVFTVEPLE GDVWPNSSAE 

       430        440        450        460        470        480 
ITVYFNPLEA KLYQQTIYCD ILGREIRLPL RIKGEGMGPK IHFNFELLDI GKVFTGSAHC 

       490        500        510        520        530        540 
YEAILYNKGS IDALFNMTPP TSALGACFVF SPKEGIIEPS GVQAIQISFS STILGNFEEE 

       550        560        570        580        590        600 
FLVNVNGSPE PVKLTIRGCV IGPTFHFNVP ALHFGDVSFG FPHTLICSLN NTSLIPMTYK 

       610        620        630        640        650        660 
LRIPGDGLGH KSISYCEQHV DYKRPSWTKE EISSMKPKEF TISPDCGTIR PQGFAAIRVT 

       670        680        690        700        710        720 
LCSNTVQKYE LALVVDVEGI GEEVLALLIT ARCVVPALHL VNTEVDFGHC FLKYPYEKTL 

       730        740        750        760        770        780 
QLANQDDLPG FYEVQPQVCE EVPTVLFSSP TPSGVISPSS TIHIPLVLET QVTGEHRSTV 

       790        800        810        820        830        840 
YISIFGSQDP PLVCHLKSAG EGPVIYVHPN QVDFGNIYVL KDSSRILNLC NQSFIPAFFQ 

       850        860        870        880        890        900 
AHMAHKKSLW TIEPNEGMVP PETDVQLALT ANLNDTLTFK DCVILDIENS STYRIPVQAS 

       910        920        930        940        950        960 
GTGSTIVSDK PFAPELNLGA HFSLDTHYYH FKLINKGRRI QQLFWMNDSF RPQAKLSKKG 

       970        980        990       1000       1010       1020 
RVKKGHAHVQ PQPSGSQEPR DPQSPVFHLH PASMELYPGQ AIDVILEGYS ATPRIVKEKL 

      1030       1040       1050       1060       1070       1080 
VCHAIIGAQK GKSLVMAVNI TCEFVAPLIQ LSTKQLIYRL EKKPNSILKP DYQPLAIKNI 

      1090       1100       1110       1120       1130       1140 
STLPVNLLLS TSGPFFICET DKSLLPATPE PIKLEIDEEK NLLIKFDPSY RNDLNNWVAE 

      1150       1160       1170       1180       1190       1200 
EILAIKYVEH PQIDSLDLRG EVHYPNLSFE TKELDFGCIL NDTELIRYVT ITNCSPLVVK 

      1210       1220       1230       1240       1250       1260 
FRWFFLVNDE ENQIRFVTLP KKPYSAPVSQ MESIPATSEA ASPPAILVTV ESPEMDLNDF 

      1270       1280       1290       1300       1310       1320 
VKTVLVDEDA RPEEKELRKT KASSVISDEI KISSTEIERI YSSQSQVEDQ ESLQTCEQNE 

      1330       1340       1350       1360       1370       1380 
MLSIGIEEVF DILPLFGVLQ PHSSHQISFT FYGHANIIAQ AKALCEVEEG PTYEITLKGE 

      1390       1400       1410       1420       1430       1440 
ASLVNYSFDT KDIHYGLQLF DHVTEREITL TNMGKVGFEF KVLTDHQSSP DNLLPGVPLI 

      1450       1460       1470       1480       1490       1500 
LPVSGFISSH QEQVLKVYYL PGVPEVFKRS FQIQIAHLDP ENITLSGEGI FPQICLDLPR 

      1510       1520       1530       1540       1550       1560 
NLTANEKYEM FLNQARKNTD KEYNKCEMLD HFDIITEEVP EDEPAEVSAH LQMEVERLIV 

      1570       1580       1590       1600       1610       1620 
QSYVLEHQKT TTPDPMDDPC FSHRSRRKLA KIQLPEYILD FGYIILGEVR THIIKIINTS 

      1630       1640       1650       1660       1670       1680 
HFPVSFHADK RVLHETGFST ELDRVKNLPH CETEIFEVRF DPQGANLPVG SKEVILPIKV 

      1690       1700       1710       1720       1730       1740 
VGGPTVHICL QAKVTIPTMT LSRGKVDFAT IQCGQCLVET IQLSNHLQVP CEWFVQSQKP 

      1750       1760       1770       1780       1790       1800 
VDKLEKHMPK YLRQKLRAEL KPKTRIFEIQ PISGVLDPGE KSNVQVKFMP KEEKFYSQTL 

      1810       1820       1830       1840       1850       1860 
VFQIAQSAQK LTLLARGQGL EPRLEFSPSV LDLGPLLLCA PGDEAEVIVK NPCNFPIEFY 

      1870       1880       1890       1900       1910       1920 
SLEFDQQYLI EEKILRKLKG YDSYNTLLLP PRNPGEKLPP ELYEYFKEIK KSKEEQMRAK 

      1930       1940       1950       1960       1970       1980 
YLENLAQENE EEDITSSDQG TSNSTKRTSL SRGISVTSNL EEWHALLVES KTYLEEEEDE 

      1990       2000       2010       2020       2030       2040 
ESLEKIIFQT DKLQSIDSHS MEEVGEVENN PVSKAIARHL GIDISAEGRL AKNRKGIAII 

      2050       2060       2070       2080       2090       2100 
IHGTPLSGKS ANAVSVAKYY NAACLSIDSI VLEAVANSNN IPGIRARELC IRAAIEQSVK 

      2110       2120       2130       2140       2150       2160 
EGEEAAQEAA VGQNVIGQGR LSTDTLGKLA SEMTLVAPEI KPGKSVRGSV VITKSKADSH 

      2170       2180       2190       2200       2210       2220 
GSGSQKQHHS HQSETPQISS SPLPPGPIHR WLSVSPSVGG ETGLMSCVLP DELLVQILAE 

      2230       2240       2250       2260       2270       2280 
RIQLSDCYRG VVFDGLDTLF AQNAAAALLC LLKAIGSREH IYILNMAQDY AAMKAQEKAK 

      2290       2300       2310       2320       2330       2340 
KEQEERKHKG ALEKEKERLQ NMDEEEYDAL TEEEKLTFDR GIQQALRERK KREQERLAKE 

      2350       2360       2370       2380       2390       2400 
MQEKKLQQEL ERQKEEDELK RRVKKGKQGP IKEEPPMKKS QAANKQVPPL TKVDVKMETI 

      2410       2420       2430       2440       2450       2460 
ERKISVREQT MSEKEELNKK KRNMGDVSMH GLPLVQDQED SEGDNSKDPD KQLAPKFKTY 

      2470       2480       2490       2500       2510       2520 
ELTLKDVQNI LMYWDRKQGV QLPPAGMEEA PHEPDDQRQV PLGGRRGRKD RERERLEKER 

      2530       2540       2550       2560       2570       2580 
TEKERLEREK AERERLEKLR ALEERSDWEG EGEEDHEGKK EKDLGVPFLD IQTPDFEGLS 

      2590       2600       2610       2620       2630       2640 
WKQALESDKL PKGEQILDIL GLGASGPPIP PPALFSIVSY PVKRPPLTMT DDLEHFVFVI 

      2650       2660       2670       2680       2690       2700 
PPSEDISLDE KKEMEIESDF LATTNTTKAQ EEQTSSSKGG KQKMKEKIDQ VFEIQKDKRH 

      2710       2720       2730       2740       2750       2760 
MALNRKVLSG EPAGTISQLS DTDLDNFNGQ HSQEKFTRLN HFRWIVPANG EVTLQVHFSS 

      2770       2780       2790       2800       2810       2820 
DEFGNFDQTF NFEILGTCCQ YQLYCRGICT YPYICQDPKV VFPQRKMDMK TNEVIFKKYV 

      2830       2840       2850       2860       2870       2880 
MSTETYYFGP LLCGKSRDKY KSSLFPGNME TLTILNTSLM VVEASFYFQN DVKANTYFLE 

      2890       2900       2910       2920       2930       2940 
PNTMVLKPNE KQILNVWAYP TSVGVFEDSI VCCINDNPEP AIFQLSCQGI RPELELEPRQ 

      2950       2960       2970       2980       2990       3000 
LHFDRLLLHR QESRVVLLRN VTLLPVAWRI TSLEHLGDDF TVSLMQGTIP PEAEYGLHLY 

      3010       3020       3030       3040       3050       3060 
FQPTKPVNIK KAIRLEVLDA ENLLGVVQIE NIMVFAEAYD IALDITFPKG AEGGLDFGIV 

      3070       3080       3090       3100       3110       3120 
RVTEEAKQPL QLKNRGKYEI AFSFSVDSVG ISTPNINSMI SVQPKKGSLT PTEKPTNVQV 

      3130       3140       3150       3160       3170       3180 
FFHAKKEVKI EHQPVLRCQI IEPNISEGGE IIASIPIKFS ANAVYSKYNI TPSSVINFGA 

      3190       3200       3210       3220       3230       3240 
LICGTRKSTT FTIENQGVTD FKFALYKLTG ESPIHQKKAA SHVRHARSRE SESFYKTGSS 

      3250       3260       3270       3280       3290       3300 
RAAKFSDTIQ KEVTTTGQAR FAHGMFTVYP GFGSIPSGGQ QVINVDCVAD AMGKCEEFIA 

      3310       3320       3330       3340       3350       3360 
IDISGRDPAV HPAGILYTLL AEACLPAFVT ENNALIFEEH QICTSANLHH ILQTIESGGL 

      3370       3380       3390       3400       3410       3420 
FVEDENKFIF CNVLVGRQAK ARFKISNVGK ITCDVNIVVR PISNKPFARI VDIFEVEPSK 

      3430       3440       3450       3460       3470       3480 
MCIASHSHAF ATVSFTPQIM QNYQCIFEAT LDGLPSTLAK SRGLVFDIAG EGNLPRVTVV 

      3490       3500       3510       3520       3530       3540 
RPVLHNQYGN PLLLFKRLLL GHSEKLPLIL KNNGVLPAQL HVDLQDELGV FSLKGRPTTA 

      3550       3560       3570       3580       3590       3600 
YIYITEENKP HVKAKKAHTA SLVVSPGDTA EFDVVFHSQK VGRMRGIIHL SVINNQYEET 

      3610       3620       3630       3640       3650       3660 
SIHMVGEGYE DDITLDNIHG LVAPTSQEDI SISEFTEIIE DNDMEDLVAA ALVDHIQFGD 

      3670       3680       3690       3700       3710       3720 
CHIGHSYNAS FTVTNHSQVN LIRFEWPVSA TIAFSPQMGH LHPGCAKDIV VTMKSDVPIN 

      3730       3740       3750       3760       3770       3780 
LKNMRIRCKL SRIMFQLPAD QVPDWDDRMH TVKWVDVPRN MPGTFTTKRK VIETDPEPAH 

      3790       3800       3810       3820       3830       3840 
SVLEENYQEL QLQISANVDF ASYHCQARDV RFKETLVYQT RVFEFDVINS GRVQLEFSWV 

      3850       3860       3870       3880       3890       3900 
SEDTSKAVSF AKPDHQGSAQ KDQLSQGTMH TGSTLDSTMD HWAEGSPQPF SVEPSSGIVP 

      3910       3920       3930       3940       3950       3960 
VGKIQKFKVK FSPLDIGDFE SNLFCQIPNL PPGEQGPVLV AKGRSTLPIC HFDLKDSDYI 

      3970       3980       3990       4000       4010       4020 
SGHQRNPELR GSSGGALDPN TRVIEFTTVG IGGKNLRTFT ILNPTNSTYS FCWISEEIES 

      4030       4040       4050       4060       4070       4080 
LQNPAAFTCL TEKGFIHPEK KAEIVFQFTP FHLGITESSW TFLIPEHNIT VPFLLVGKTT 

      4090       4100       4110       4120       4130       4140 
EPLISLNKSH LNFSSLLIGR EARETVQIIN KEEQGFDFSF QDNSRYSEGF SNSLLVCPME 

      4150       4160       4170       4180       4190       4200 
GWIPPLSRFP IDIFFTPKQE GDVNFNLICN VEKKVHPVTL NVKAEGYTMN VEIKCKDRTG 

      4210       4220       4230       4240       4250       4260 
SITLLTPNQT NIINFYEVEL NECVQCEFNF INTGKFTFSF QAQLCGSKTL LQYLEFSPID 

      4270       4280       4290       4300       4310       4320 
STVDVGQSVH ATLSFQPLKK CVLTDLELII KISHGPTFMC NISGCAVSPA IHFSFTSYNF 

      4330       4340       4350       4360       4370       4380 
GTCFIYQAGM PPYKQTLVIT NKEETPMSID CLYTNTTHLE VNSRVDVVKP GNTLEIPITF 

      4390       4400       4410       4420       4430       4440 
YPRESINYQE LIPFEINGLS QQTVEIKGKG TKMKILVLDP ANRIVKLGAV LPGQVVKRTV 

      4450       4460       4470       4480       4490       4500 
SIMNNSLAQL TFNQSILFTI PELQEPKVLT LAPFHNITLK PKEVCKLEVI FAPKKRVPPF 

      4510       4520       4530       4540       4550       4560 
SEEVFMECMG LLRPLFLLSG CCQALEISLD QEHIPFGPVV YQTQATRRIL MMNTGDVGAR 

      4570       4580       4590       4600       4610       4620 
FKWDIKKFEP HFSISPEEGY ITSGMEVSFE VTYHPTEVGK ESLCKNILCY IQGGSPLSLT 

      4630       4640       4650       4660       4670       4680 
LSGVCVGPPA VKEVVNFTCQ VRSKHTQTIL LSNRTNQTWN LHPIFEGEHW EGPEFITLEA 

      4690       4700       4710       4720       4730       4740 
HQQNKPYEIT YRPRTMNLEN RKHQGTLFFP LPDGTGWLYA LHGTSELPKA VANIYREVPC 

      4750       4760       4770       4780       4790       4800 
KTPYTELLPI TNWLNKPQRF RVIVEILKPE KPDLSITMKG LDYIDVLSGS KKDYKLNFFS 

      4810       4820       4830       4840       4850       4860 
HKEGTYAAKV IFRNEVTNEF LYYNVSFRVI PSGIIKTIEM VTPVRQVASA SIKLENPLPY 

      4870       4880       4890       4900       4910       4920 
SVTFSTECRM PDIALPSQFV VPANSEGTFS FEFQPLKAGE TFGRLTLHNT DLGYYQYELY 

      4930       4940       4950       4960       4970       4980 
LKATPALPEK PVHFQTVLGS SQIILVKFIN YTRQRTEYYC RTDCTDFHAE KLINAAPGGQ 

      4990       5000       5010       5020       5030       5040 
GGTEASVEVL FEPSHLGETK GILILSSLAG GEYIIPLFGM ALPPKPQGPF SIRAGYSIII 

      5050       5060       5070       5080       5090       5100 
PFKNVFYHMV TFSIIVDNPA FTIRAGESVR PKKINNITVS FEGNPSGSKT PITTKLTVSC 

      5110       5120 
PPGEGSETGV KWVYYLKGIT L 

« Hide

Isoform 2 [UniParc].

Checksum: 253E0EF252881F8B
Show »

FASTA1,098123,076
Isoform 4 [UniParc].

Checksum: B4AB03CA5302D5BB
Show »

FASTA1,017114,208
Isoform 5 [UniParc].

Checksum: 06C5B2713F7D7470
Show »

FASTA70879,722
Isoform 6 [UniParc].

Checksum: 7236F8324AD317AF
Show »

FASTA950106,269
Isoform 7 [UniParc].

Checksum: 5AE6895A825BACF8
Show »

FASTA940105,338

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"A 360-kb interchromosomal duplication of the human HYDIN locus."
Doggett N.A., Xie G., Meincke L.J., Sutherland R.D., Mundt M.O., Berbari N.S., Davy B.E., Robinson M.L., Rudd M.K., Weber J.L., Stallings R.L., Han C.
Genomics 88:762-771(2006) [PubMed] [Europe PMC] [Abstract]
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]"Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry."
Olbrich H., Schmidts M., Werner C., Onoufriadis A., Loges N.T., Raidt J., Banki N.F., Shoemark A., Burgoyne T., Al Turki S., Hurles M.E., Kohler G., Schroeder J., Nurnberg G., Nurnberg P., Chung E.M., Reinhardt R., Marthin J.K. expand/collapse author list , Nielsen K.G., Mitchison H.M., Omran H.
Am. J. Hum. Genet. 91:672-684(2012) [PubMed] [Europe PMC] [Abstract]
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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT42699.
T46330.
RefSeqNP_001185471.1. NM_001198542.1.
NP_001185472.1. NM_001198543.1.
NP_001257903.1. NM_001270974.1.
NP_060028.2. NM_017558.4.
UniGeneHs.461229.
Hs.744828.
Hs.745353.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2E6JNMR-A458-563[»]
2YS4NMR-A182-296[»]
ProteinModelPortalQ4G0P3.
SMRQ4G0P3. Positions 182-296, 458-563.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120142. 2 interactions.
IntActQ4G0P3. 1 interaction.

PTM databases

PhosphoSiteQ4G0P3.

Polymorphism databases

DMDM327478578.

Proteomic databases

PaxDbQ4G0P3.
PRIDEQ4G0P3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000321489; ENSP00000314736; ENSG00000157423. [Q4G0P3-5]
ENST00000393567; ENSP00000377197; ENSG00000157423. [Q4G0P3-1]
ENST00000448691; ENSP00000394826; ENSG00000157423. [Q4G0P3-5]
ENST00000538248; ENSP00000444970; ENSG00000157423. [Q4G0P3-8]
ENST00000541601; ENSP00000437341; ENSG00000157423. [Q4G0P3-10]
GeneID54768.
KEGGhsa:54768.
UCSCuc010cfz.2. human. [Q4G0P3-5]
uc010vmd.2. human. [Q4G0P3-8]
uc031qwy.1. human. [Q4G0P3-1]

Organism-specific databases

CTD54768.
GeneCardsGC16M070842.
H-InvDBHIX0021241.
HIX0161592.
HGNCHGNC:19368. HYDIN.
HPAHPA046282.
MIM608647. phenotype.
610812. gene.
neXtProtNX_Q4G0P3.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA134866950.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44977.
HOGENOMHOG000171495.
HOVERGENHBG099337.
InParanoidQ4G0P3.
KOK17570.
OMAHFPVSFH.
OrthoDBEOG7TMZR1.
PhylomeDBQ4G0P3.
TreeFamTF340616.

Gene expression databases

ArrayExpressQ4G0P3.
BgeeQ4G0P3.
CleanExHS_HYDIN.
GenevestigatorQ4G0P3.

Family and domain databases

Gene3D2.60.40.360. 2 hits.
3.40.50.300. 2 hits.
InterProIPR027417. P-loop_NTPase.
IPR008962. PapD-like.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ4G0P3.
GenomeRNAi54768.
NextBio57417.
PROQ4G0P3.
SOURCESearch...

Entry information

Entry nameHYDIN_HUMAN
AccessionPrimary (citable) accession number: Q4G0P3
Secondary accession number(s): A6NC70 expand/collapse secondary AC list , A6NLZ0, B4DQY4, B4DRN4, F5H6V3, Q8N3H8, Q8N3P6, Q8TC08, Q96JG3, Q96SS4, Q9H5U3, Q9H9B8, Q9NTI0, Q9UBE5
Entry history
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 5, 2011
Last modified: April 16, 2014
This is version 86 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM