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Q4G0P3

- HYDIN_HUMAN

UniProt

Q4G0P3 - HYDIN_HUMAN

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Protein

Hydrocephalus-inducing protein homolog

Gene

HYDIN

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

Functioni

Required for ciliary motility.By similarity

GO - Biological processi

  1. cilium assembly Source: Ensembl
  2. cilium movement Source: Ensembl
  3. epithelial cell development Source: Ensembl
  4. trachea development Source: Ensembl
  5. ventricular system development Source: Ensembl
Complete GO annotation...

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

GO - Cellular componenti

  1. cell projection Source: UniProtKB-KW
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

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 homologPRO_0000284844Add
BLAST

Proteomic databases

MaxQBiQ4G0P3.
PaxDbiQ4G0P3.
PRIDEiQ4G0P3.

PTM databases

PhosphoSiteiQ4G0P3.

Expressioni

Gene expression databases

BgeeiQ4G0P3.
CleanExiHS_HYDIN.
ExpressionAtlasiQ4G0P3. baseline and differential.
GenevestigatoriQ4G0P3.

Organism-specific databases

HPAiHPA046282.

Interactioni

Protein-protein interaction databases

BioGridi120142. 2 interactions.
IntActiQ4G0P3. 1 interaction.

Structurei

Secondary structure

1
5121
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.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ4G0P3.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1908 – 193326Sequence AnalysisAdd
BLAST
Coiled coili2267 – 236599Sequence AnalysisAdd
BLAST
Coiled coili2504 – 254946Sequence AnalysisAdd
BLAST

Compositional bias

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG44977.
GeneTreeiENSGT00610000086095.
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) [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
MTSRRLEESM GAVQMGLVNM FKGFQSKVLP PLSPKVVTEE EVNRMLTPSE
60 70 80 90 100
FLKEMSLTTE QRLAKTRLMC RPQIIELLDM GETTHQKFSG IDLDQALFQP
110 120 130 140 150
FPSEIIFQNY TPCEVYEVPL ILRNNDKIPR LVKVVEESSP YFKVISPKDI
160 170 180 190 200
GHKVAPGVPS IFRILFTPEE NKDYAHTLTC VTEREKFIVP IKARGARAIL
210 220 230 240 250
DFPDKLNFST CPVKYSTQKI LLVRNIGNKN AVFHIKTCRP FSIEPAIGTL
260 270 280 290 300
NVGESMQLEV EFEPQSVGDH SGRLIVCYDT GEKVFVSLYG AAIDMNIRLD
310 320 330 340 350
KNSLTIEKTY ISLANQRTIT IHNRSNIIAH FLWKVFATQQ EEDREKYRAC
360 370 380 390 400
DDLIKEEKDE TDEFFEECIT DPLLREHLSV LSRTFANQRR LVQGDSKLFF
410 420 430 440 450
NNVFTVEPLE GDVWPNSSAE ITVYFNPLEA KLYQQTIYCD ILGREIRLPL
460 470 480 490 500
RIKGEGMGPK IHFNFELLDI GKVFTGSAHC YEAILYNKGS IDALFNMTPP
510 520 530 540 550
TSALGACFVF SPKEGIIEPS GVQAIQISFS STILGNFEEE FLVNVNGSPE
560 570 580 590 600
PVKLTIRGCV IGPTFHFNVP ALHFGDVSFG FPHTLICSLN NTSLIPMTYK
610 620 630 640 650
LRIPGDGLGH KSISYCEQHV DYKRPSWTKE EISSMKPKEF TISPDCGTIR
660 670 680 690 700
PQGFAAIRVT LCSNTVQKYE LALVVDVEGI GEEVLALLIT ARCVVPALHL
710 720 730 740 750
VNTEVDFGHC FLKYPYEKTL QLANQDDLPG FYEVQPQVCE EVPTVLFSSP
760 770 780 790 800
TPSGVISPSS TIHIPLVLET QVTGEHRSTV YISIFGSQDP PLVCHLKSAG
810 820 830 840 850
EGPVIYVHPN QVDFGNIYVL KDSSRILNLC NQSFIPAFFQ AHMAHKKSLW
860 870 880 890 900
TIEPNEGMVP PETDVQLALT ANLNDTLTFK DCVILDIENS STYRIPVQAS
910 920 930 940 950
GTGSTIVSDK PFAPELNLGA HFSLDTHYYH FKLINKGRRI QQLFWMNDSF
960 970 980 990 1000
RPQAKLSKKG RVKKGHAHVQ PQPSGSQEPR DPQSPVFHLH PASMELYPGQ
1010 1020 1030 1040 1050
AIDVILEGYS ATPRIVKEKL VCHAIIGAQK GKSLVMAVNI TCEFVAPLIQ
1060 1070 1080 1090 1100
LSTKQLIYRL EKKPNSILKP DYQPLAIKNI STLPVNLLLS TSGPFFICET
1110 1120 1130 1140 1150
DKSLLPATPE PIKLEIDEEK NLLIKFDPSY RNDLNNWVAE EILAIKYVEH
1160 1170 1180 1190 1200
PQIDSLDLRG EVHYPNLSFE TKELDFGCIL NDTELIRYVT ITNCSPLVVK
1210 1220 1230 1240 1250
FRWFFLVNDE ENQIRFVTLP KKPYSAPVSQ MESIPATSEA ASPPAILVTV
1260 1270 1280 1290 1300
ESPEMDLNDF VKTVLVDEDA RPEEKELRKT KASSVISDEI KISSTEIERI
1310 1320 1330 1340 1350
YSSQSQVEDQ ESLQTCEQNE MLSIGIEEVF DILPLFGVLQ PHSSHQISFT
1360 1370 1380 1390 1400
FYGHANIIAQ AKALCEVEEG PTYEITLKGE ASLVNYSFDT KDIHYGLQLF
1410 1420 1430 1440 1450
DHVTEREITL TNMGKVGFEF KVLTDHQSSP DNLLPGVPLI LPVSGFISSH
1460 1470 1480 1490 1500
QEQVLKVYYL PGVPEVFKRS FQIQIAHLDP ENITLSGEGI FPQICLDLPR
1510 1520 1530 1540 1550
NLTANEKYEM FLNQARKNTD KEYNKCEMLD HFDIITEEVP EDEPAEVSAH
1560 1570 1580 1590 1600
LQMEVERLIV QSYVLEHQKT TTPDPMDDPC FSHRSRRKLA KIQLPEYILD
1610 1620 1630 1640 1650
FGYIILGEVR THIIKIINTS HFPVSFHADK RVLHETGFST ELDRVKNLPH
1660 1670 1680 1690 1700
CETEIFEVRF DPQGANLPVG SKEVILPIKV VGGPTVHICL QAKVTIPTMT
1710 1720 1730 1740 1750
LSRGKVDFAT IQCGQCLVET IQLSNHLQVP CEWFVQSQKP VDKLEKHMPK
1760 1770 1780 1790 1800
YLRQKLRAEL KPKTRIFEIQ PISGVLDPGE KSNVQVKFMP KEEKFYSQTL
1810 1820 1830 1840 1850
VFQIAQSAQK LTLLARGQGL EPRLEFSPSV LDLGPLLLCA PGDEAEVIVK
1860 1870 1880 1890 1900
NPCNFPIEFY SLEFDQQYLI EEKILRKLKG YDSYNTLLLP PRNPGEKLPP
1910 1920 1930 1940 1950
ELYEYFKEIK KSKEEQMRAK YLENLAQENE EEDITSSDQG TSNSTKRTSL
1960 1970 1980 1990 2000
SRGISVTSNL EEWHALLVES KTYLEEEEDE ESLEKIIFQT DKLQSIDSHS
2010 2020 2030 2040 2050
MEEVGEVENN PVSKAIARHL GIDISAEGRL AKNRKGIAII IHGTPLSGKS
2060 2070 2080 2090 2100
ANAVSVAKYY NAACLSIDSI VLEAVANSNN IPGIRARELC IRAAIEQSVK
2110 2120 2130 2140 2150
EGEEAAQEAA VGQNVIGQGR LSTDTLGKLA SEMTLVAPEI KPGKSVRGSV
2160 2170 2180 2190 2200
VITKSKADSH GSGSQKQHHS HQSETPQISS SPLPPGPIHR WLSVSPSVGG
2210 2220 2230 2240 2250
ETGLMSCVLP DELLVQILAE RIQLSDCYRG VVFDGLDTLF AQNAAAALLC
2260 2270 2280 2290 2300
LLKAIGSREH IYILNMAQDY AAMKAQEKAK KEQEERKHKG ALEKEKERLQ
2310 2320 2330 2340 2350
NMDEEEYDAL TEEEKLTFDR GIQQALRERK KREQERLAKE MQEKKLQQEL
2360 2370 2380 2390 2400
ERQKEEDELK RRVKKGKQGP IKEEPPMKKS QAANKQVPPL TKVDVKMETI
2410 2420 2430 2440 2450
ERKISVREQT MSEKEELNKK KRNMGDVSMH GLPLVQDQED SEGDNSKDPD
2460 2470 2480 2490 2500
KQLAPKFKTY ELTLKDVQNI LMYWDRKQGV QLPPAGMEEA PHEPDDQRQV
2510 2520 2530 2540 2550
PLGGRRGRKD RERERLEKER TEKERLEREK AERERLEKLR ALEERSDWEG
2560 2570 2580 2590 2600
EGEEDHEGKK EKDLGVPFLD IQTPDFEGLS WKQALESDKL PKGEQILDIL
2610 2620 2630 2640 2650
GLGASGPPIP PPALFSIVSY PVKRPPLTMT DDLEHFVFVI PPSEDISLDE
2660 2670 2680 2690 2700
KKEMEIESDF LATTNTTKAQ EEQTSSSKGG KQKMKEKIDQ VFEIQKDKRH
2710 2720 2730 2740 2750
MALNRKVLSG EPAGTISQLS DTDLDNFNGQ HSQEKFTRLN HFRWIVPANG
2760 2770 2780 2790 2800
EVTLQVHFSS DEFGNFDQTF NFEILGTCCQ YQLYCRGICT YPYICQDPKV
2810 2820 2830 2840 2850
VFPQRKMDMK TNEVIFKKYV MSTETYYFGP LLCGKSRDKY KSSLFPGNME
2860 2870 2880 2890 2900
TLTILNTSLM VVEASFYFQN DVKANTYFLE PNTMVLKPNE KQILNVWAYP
2910 2920 2930 2940 2950
TSVGVFEDSI VCCINDNPEP AIFQLSCQGI RPELELEPRQ LHFDRLLLHR
2960 2970 2980 2990 3000
QESRVVLLRN VTLLPVAWRI TSLEHLGDDF TVSLMQGTIP PEAEYGLHLY
3010 3020 3030 3040 3050
FQPTKPVNIK KAIRLEVLDA ENLLGVVQIE NIMVFAEAYD IALDITFPKG
3060 3070 3080 3090 3100
AEGGLDFGIV RVTEEAKQPL QLKNRGKYEI AFSFSVDSVG ISTPNINSMI
3110 3120 3130 3140 3150
SVQPKKGSLT PTEKPTNVQV FFHAKKEVKI EHQPVLRCQI IEPNISEGGE
3160 3170 3180 3190 3200
IIASIPIKFS ANAVYSKYNI TPSSVINFGA LICGTRKSTT FTIENQGVTD
3210 3220 3230 3240 3250
FKFALYKLTG ESPIHQKKAA SHVRHARSRE SESFYKTGSS RAAKFSDTIQ
3260 3270 3280 3290 3300
KEVTTTGQAR FAHGMFTVYP GFGSIPSGGQ QVINVDCVAD AMGKCEEFIA
3310 3320 3330 3340 3350
IDISGRDPAV HPAGILYTLL AEACLPAFVT ENNALIFEEH QICTSANLHH
3360 3370 3380 3390 3400
ILQTIESGGL FVEDENKFIF CNVLVGRQAK ARFKISNVGK ITCDVNIVVR
3410 3420 3430 3440 3450
PISNKPFARI VDIFEVEPSK MCIASHSHAF ATVSFTPQIM QNYQCIFEAT
3460 3470 3480 3490 3500
LDGLPSTLAK SRGLVFDIAG EGNLPRVTVV RPVLHNQYGN PLLLFKRLLL
3510 3520 3530 3540 3550
GHSEKLPLIL KNNGVLPAQL HVDLQDELGV FSLKGRPTTA YIYITEENKP
3560 3570 3580 3590 3600
HVKAKKAHTA SLVVSPGDTA EFDVVFHSQK VGRMRGIIHL SVINNQYEET
3610 3620 3630 3640 3650
SIHMVGEGYE DDITLDNIHG LVAPTSQEDI SISEFTEIIE DNDMEDLVAA
3660 3670 3680 3690 3700
ALVDHIQFGD CHIGHSYNAS FTVTNHSQVN LIRFEWPVSA TIAFSPQMGH
3710 3720 3730 3740 3750
LHPGCAKDIV VTMKSDVPIN LKNMRIRCKL SRIMFQLPAD QVPDWDDRMH
3760 3770 3780 3790 3800
TVKWVDVPRN MPGTFTTKRK VIETDPEPAH SVLEENYQEL QLQISANVDF
3810 3820 3830 3840 3850
ASYHCQARDV RFKETLVYQT RVFEFDVINS GRVQLEFSWV SEDTSKAVSF
3860 3870 3880 3890 3900
AKPDHQGSAQ KDQLSQGTMH TGSTLDSTMD HWAEGSPQPF SVEPSSGIVP
3910 3920 3930 3940 3950
VGKIQKFKVK FSPLDIGDFE SNLFCQIPNL PPGEQGPVLV AKGRSTLPIC
3960 3970 3980 3990 4000
HFDLKDSDYI SGHQRNPELR GSSGGALDPN TRVIEFTTVG IGGKNLRTFT
4010 4020 4030 4040 4050
ILNPTNSTYS FCWISEEIES LQNPAAFTCL TEKGFIHPEK KAEIVFQFTP
4060 4070 4080 4090 4100
FHLGITESSW TFLIPEHNIT VPFLLVGKTT EPLISLNKSH LNFSSLLIGR
4110 4120 4130 4140 4150
EARETVQIIN KEEQGFDFSF QDNSRYSEGF SNSLLVCPME GWIPPLSRFP
4160 4170 4180 4190 4200
IDIFFTPKQE GDVNFNLICN VEKKVHPVTL NVKAEGYTMN VEIKCKDRTG
4210 4220 4230 4240 4250
SITLLTPNQT NIINFYEVEL NECVQCEFNF INTGKFTFSF QAQLCGSKTL
4260 4270 4280 4290 4300
LQYLEFSPID STVDVGQSVH ATLSFQPLKK CVLTDLELII KISHGPTFMC
4310 4320 4330 4340 4350
NISGCAVSPA IHFSFTSYNF GTCFIYQAGM PPYKQTLVIT NKEETPMSID
4360 4370 4380 4390 4400
CLYTNTTHLE VNSRVDVVKP GNTLEIPITF YPRESINYQE LIPFEINGLS
4410 4420 4430 4440 4450
QQTVEIKGKG TKMKILVLDP ANRIVKLGAV LPGQVVKRTV SIMNNSLAQL
4460 4470 4480 4490 4500
TFNQSILFTI PELQEPKVLT LAPFHNITLK PKEVCKLEVI FAPKKRVPPF
4510 4520 4530 4540 4550
SEEVFMECMG LLRPLFLLSG CCQALEISLD QEHIPFGPVV YQTQATRRIL
4560 4570 4580 4590 4600
MMNTGDVGAR FKWDIKKFEP HFSISPEEGY ITSGMEVSFE VTYHPTEVGK
4610 4620 4630 4640 4650
ESLCKNILCY IQGGSPLSLT LSGVCVGPPA VKEVVNFTCQ VRSKHTQTIL
4660 4670 4680 4690 4700
LSNRTNQTWN LHPIFEGEHW EGPEFITLEA HQQNKPYEIT YRPRTMNLEN
4710 4720 4730 4740 4750
RKHQGTLFFP LPDGTGWLYA LHGTSELPKA VANIYREVPC KTPYTELLPI
4760 4770 4780 4790 4800
TNWLNKPQRF RVIVEILKPE KPDLSITMKG LDYIDVLSGS KKDYKLNFFS
4810 4820 4830 4840 4850
HKEGTYAAKV IFRNEVTNEF LYYNVSFRVI PSGIIKTIEM VTPVRQVASA
4860 4870 4880 4890 4900
SIKLENPLPY SVTFSTECRM PDIALPSQFV VPANSEGTFS FEFQPLKAGE
4910 4920 4930 4940 4950
TFGRLTLHNT DLGYYQYELY LKATPALPEK PVHFQTVLGS SQIILVKFIN
4960 4970 4980 4990 5000
YTRQRTEYYC RTDCTDFHAE KLINAAPGGQ GGTEASVEVL FEPSHLGETK
5010 5020 5030 5040 5050
GILILSSLAG GEYIIPLFGM ALPPKPQGPF SIRAGYSIII PFKNVFYHMV
5060 5070 5080 5090 5100
TFSIIVDNPA FTIRAGESVR PKKINNITVS FEGNPSGSKT PITTKLTVSC
5110 5120
PPGEGSETGV KWVYYLKGIT L
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.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti299 – 2991L → P in BAB14314. (PubMed:14702039)Curated
Sequence conflicti313 – 3131L → M in AAH28351. (PubMed:15489334)Curated
Sequence conflicti460 – 4601K → T in BAB14314. (PubMed:14702039)Curated
Sequence conflicti532 – 5321T → I in AAH28351. (PubMed:15489334)Curated
Sequence conflicti584 – 5841T → I in BAG61096. (PubMed:14702039)Curated
Sequence conflicti881 – 8811D → N in BAG61096. (PubMed:14702039)Curated
Sequence conflicti3945 – 39451S → N in AAH43273. (PubMed:15489334)Curated
Sequence conflicti4663 – 46631P → T in AAH43273. (PubMed:15489334)Curated
Sequence conflicti4667 – 46671G → V in BAB15527. (PubMed:14702039)Curated

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. 1 PublicationVSP_024684Add
BLAST
Alternative sequencei1 – 11M → MESAGGFKLGMEPLSGGGVC EKKKLLKM in isoform 6. 1 PublicationVSP_042692
Alternative sequencei1 – 11M → MESAGGFKLGEKKKLLKM in isoform 7. 1 PublicationVSP_046818
Alternative sequencei693 – 70816CVVPA…EVDFG → YCSPACSSPESPPSLQ in isoform 5. 1 PublicationVSP_024687Add
BLAST
Alternative sequencei709 – 51214413Missing in isoform 5. 1 PublicationVSP_024688Add
BLAST
Alternative sequencei923 – 9231S → R in isoform 6 and isoform 7. 1 PublicationVSP_042693
Alternative sequencei924 – 51214198Missing in isoform 6 and isoform 7. 1 PublicationVSP_042694Add
BLAST
Alternative sequencei1015 – 10173IVK → VRG in isoform 4. 2 PublicationsVSP_024691
Alternative sequencei1018 – 51214104Missing in isoform 4. 2 PublicationsVSP_024692Add
BLAST
Alternative sequencei3824 – 38241E → M in isoform 2. 1 PublicationVSP_024697
Alternative sequencei4887 – 5121235GTFSF…KGITL → RWGLTASSRLECSGMIIAPC SLKLLQSRPPPASAS in isoform 2. 1 PublicationVSP_024698Add
BLAST

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]
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...
MobiDBi 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 ]
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.
GeneTreei ENSGT00610000086095.
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

Bgeei Q4G0P3.
CleanExi HS_HYDIN.
ExpressionAtlasi Q4G0P3. baseline and differential.
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: October 29, 2014
This is version 90 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