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Protein

Hydrocephalus-inducing protein homolog

Gene

HYDIN

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

Functioni

Required for ciliary motility.By similarity

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-33211-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:19368. HYDIN.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 5 (CILD5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:608647

Keywords - Diseasei

Ciliopathy, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi54768.
MalaCardsiHYDIN.
MIMi608647. phenotype.
OpenTargetsiENSG00000157423.
ENSG00000283022.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA134866950.

Polymorphism and mutation databases

BioMutaiHYDIN.
DMDMi327478578.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002848441 – 5121Hydrocephalus-inducing protein homologAdd BLAST5121

Proteomic databases

EPDiQ4G0P3.
MaxQBiQ4G0P3.
PaxDbiQ4G0P3.
PeptideAtlasiQ4G0P3.
PRIDEiQ4G0P3.

PTM databases

iPTMnetiQ4G0P3.
PhosphoSitePlusiQ4G0P3.

Expressioni

Gene expression databases

BgeeiENSG00000157423.
CleanExiHS_HYDIN.
ExpressionAtlasiQ4G0P3. baseline and differential.
GenevisibleiQ4G0P3. HS.

Organism-specific databases

HPAiCAB026151.

Interactioni

Protein-protein interaction databases

BioGridi120142. 2 interactors.
IntActiQ4G0P3. 1 interactor.
STRINGi9606.ENSP00000314736.

Structurei

Secondary structure

15121
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi204 – 206Combined sources3
Beta strandi210 – 215Combined sources6
Beta strandi217 – 224Combined sources8
Beta strandi227 – 229Combined sources3
Beta strandi231 – 236Combined sources6
Beta strandi241 – 250Combined sources10
Beta strandi255 – 262Combined sources8
Beta strandi265 – 268Combined sources4
Beta strandi275 – 281Combined sources7
Beta strandi460 – 464Combined sources5
Beta strandi466 – 476Combined sources11
Beta strandi479 – 487Combined sources9
Beta strandi493 – 497Combined sources5
Helixi503 – 507Combined sources5
Beta strandi509 – 517Combined sources9
Beta strandi524 – 529Combined sources6
Beta strandi535 – 541Combined sources7
Beta strandi543 – 547Combined sources5
Beta strandi554 – 561Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E6JNMR-A459-563[»]
2YS4NMR-A182-296[»]
ProteinModelPortaliQ4G0P3.
SMRiQ4G0P3.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ4G0P3.

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1908 – 1933Sequence analysisAdd BLAST26
Coiled coili2267 – 2365Sequence analysisAdd BLAST99
Coiled coili2504 – 2549Sequence analysisAdd BLAST46

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1975 – 1981Poly-Glu7

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IE17. Eukaryota.
ENOG410XT7J. LUCA.
GeneTreeiENSGT00610000086095.
HOGENOMiHOG000171495.
HOVERGENiHBG099337.
InParanoidiQ4G0P3.
KOiK17570.
OMAiPTVHICL.
OrthoDBiEOG091G001F.
PhylomeDBiQ4G0P3.
TreeFamiTF340616.

Family and domain databases

Gene3Di2.60.40.360. 2 hits.
3.40.50.300. 2 hits.
InterProiIPR031549. ASH.
IPR033305. Hydin.
IPR033768. Hydin_ADK.
IPR027417. P-loop_NTPase.
IPR008962. PapD-like.
[Graphical view]
PANTHERiPTHR23053:SF16. PTHR23053:SF16. 8 hits.
PfamiPF15780. ASH. 1 hit.
PF17213. Hydin_ADK. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

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

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti299L → P in BAB14314 (PubMed:14702039).Curated1
Sequence conflicti313L → M in AAH28351 (PubMed:15489334).Curated1
Sequence conflicti460K → T in BAB14314 (PubMed:14702039).Curated1
Sequence conflicti532T → I in AAH28351 (PubMed:15489334).Curated1
Sequence conflicti584T → I in BAG61096 (PubMed:14702039).Curated1
Sequence conflicti881D → N in BAG61096 (PubMed:14702039).Curated1
Sequence conflicti3945S → N in AAH43273 (PubMed:15489334).Curated1
Sequence conflicti4663P → T in AAH43273 (PubMed:15489334).Curated1
Sequence conflicti4667G → V in BAB15527 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031837451R → P.Corresponds to variant rs7200485dbSNPEnsembl.1
Natural variantiVAR_031838584T → N.Corresponds to variant rs7200126dbSNPEnsembl.1
Natural variantiVAR_031839690T → A.Corresponds to variant rs10744982dbSNPEnsembl.1
Natural variantiVAR_031840724N → D.Corresponds to variant rs3817211dbSNPEnsembl.1
Natural variantiVAR_0596671077I → V.Corresponds to variant rs6416709dbSNPEnsembl.1
Natural variantiVAR_0596681228V → L.Corresponds to variant rs1774513dbSNPEnsembl.1
Natural variantiVAR_0596691534I → V.Corresponds to variant rs1774303dbSNPEnsembl.1
Natural variantiVAR_0510361718V → M.Corresponds to variant rs783762dbSNPEnsembl.1
Natural variantiVAR_0510371892R → H.Corresponds to variant rs783732dbSNPEnsembl.1
Natural variantiVAR_0510381952R → Q.Corresponds to variant rs17321570dbSNPEnsembl.1
Natural variantiVAR_0596702087R → C.Corresponds to variant rs1774541dbSNPEnsembl.1
Natural variantiVAR_0510392099V → M.Corresponds to variant rs1798337dbSNPEnsembl.1
Natural variantiVAR_0596712242Q → R.Corresponds to variant rs2258307dbSNPEnsembl.1
Natural variantiVAR_0510402276Q → R.Corresponds to variant rs1815707dbSNPEnsembl.1
Natural variantiVAR_0596722298R → G.Corresponds to variant rs1774360dbSNPEnsembl.1
Natural variantiVAR_0510412306E → G.Corresponds to variant rs2502726dbSNPEnsembl.1
Natural variantiVAR_0510422445N → I.Corresponds to variant rs1798532dbSNPEnsembl.1
Natural variantiVAR_0616662455P → Q.Corresponds to variant rs1798531dbSNPEnsembl.1
Natural variantiVAR_0510432502L → S.Corresponds to variant rs1798529dbSNPEnsembl.1
Natural variantiVAR_0596732530K → E.Corresponds to variant rs1798528dbSNPEnsembl.1
Natural variantiVAR_0510442558G → E.Corresponds to variant rs8044142dbSNPEnsembl.1
Natural variantiVAR_0596742570D → N.Corresponds to variant rs8044001dbSNPEnsembl.1
Natural variantiVAR_0510452589K → R.Corresponds to variant rs1774395dbSNPEnsembl.1
Natural variantiVAR_0596752694I → S.Corresponds to variant rs1774449dbSNPEnsembl.1
Natural variantiVAR_0510462932P → L.Corresponds to variant rs11075812dbSNPEnsembl.1
Natural variantiVAR_0510472937E → K.Corresponds to variant rs8047935dbSNPEnsembl.1
Natural variantiVAR_0510482939R → K.Corresponds to variant rs7188837dbSNPEnsembl.1
Natural variantiVAR_0510492994E → G.Corresponds to variant rs12102425dbSNPEnsembl.1
Natural variantiVAR_0510503116T → R.Corresponds to variant rs1774423dbSNPEnsembl.1
Natural variantiVAR_0510513269Y → D.Corresponds to variant rs7197263dbSNPEnsembl.1
Natural variantiVAR_0596763291A → P.Corresponds to variant rs1798440dbSNPEnsembl.1
Natural variantiVAR_0596773316L → P.Corresponds to variant rs1774331dbSNPEnsembl.1
Natural variantiVAR_0596783739A → T.Corresponds to variant rs1774504dbSNPEnsembl.1
Natural variantiVAR_0596793742V → I.Corresponds to variant rs1798413dbSNPEnsembl.1
Natural variantiVAR_0510523811R → H.Corresponds to variant rs13338821dbSNPEnsembl.1
Natural variantiVAR_0596803840V → L.Corresponds to variant rs1798325dbSNPEnsembl.1
Natural variantiVAR_0596813869M → R.Corresponds to variant rs7192347dbSNPEnsembl.1
Natural variantiVAR_0510533899V → M.Corresponds to variant rs1626593dbSNPEnsembl.1
Natural variantiVAR_0596824005T → A.Corresponds to variant rs1539302dbSNPEnsembl.1
Natural variantiVAR_0510544026A → T.Corresponds to variant rs11075798dbSNPEnsembl.1
Natural variantiVAR_0510554088K → R.Corresponds to variant rs1774416dbSNPEnsembl.1
Natural variantiVAR_0596834160E → Q.Corresponds to variant rs1798314dbSNPEnsembl.1
Natural variantiVAR_0510564270H → Y.Corresponds to variant rs1891343dbSNPEnsembl.1
Natural variantiVAR_0596844363S → C.Corresponds to variant rs1770434dbSNPEnsembl.1
Natural variantiVAR_0596854412K → E.Corresponds to variant rs1774480dbSNPEnsembl.1
Natural variantiVAR_0510574520G → S.Corresponds to variant rs2292127dbSNPEnsembl.1
Natural variantiVAR_0596864552M → L.Corresponds to variant rs1770442dbSNPEnsembl.1
Natural variantiVAR_0510584606N → K.Corresponds to variant rs783898dbSNPEnsembl.1
Natural variantiVAR_0596874869R → Q.Corresponds to variant rs2795652dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0246841 – 3823Missing in isoform 2. 1 PublicationAdd BLAST3823
Alternative sequenceiVSP_0426921M → MESAGGFKLGMEPLSGGGVC EKKKLLKM in isoform 6. 1 Publication1
Alternative sequenceiVSP_0468181M → MESAGGFKLGEKKKLLKM in isoform 7. 1 Publication1
Alternative sequenceiVSP_024687693 – 708CVVPA…EVDFG → YCSPACSSPESPPSLQ in isoform 5. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_024688709 – 5121Missing in isoform 5. 1 PublicationAdd BLAST4413
Alternative sequenceiVSP_042693923S → R in isoform 6 and isoform 7. 1 Publication1
Alternative sequenceiVSP_042694924 – 5121Missing in isoform 6 and isoform 7. 1 PublicationAdd BLAST4198
Alternative sequenceiVSP_0246911015 – 1017IVK → VRG in isoform 4. 2 Publications3
Alternative sequenceiVSP_0246921018 – 5121Missing in isoform 4. 2 PublicationsAdd BLAST4104
Alternative sequenceiVSP_0246973824E → M in isoform 2. 1 Publication1
Alternative sequenceiVSP_0246984887 – 5121GTFSF…KGITL → RWGLTASSRLECSGMIIAPC SLKLLQSRPPPASAS in isoform 2. 1 PublicationAdd BLAST235

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001270974.2. [Q4G0P3-1]
NP_060028.2. NM_017558.4. [Q4G0P3-5]
UniGeneiHs.351914.
Hs.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]
ENST00000634268; ENSP00000489181; ENSG00000283022. [Q4G0P3-8]
ENST00000634392; ENSP00000489221; ENSG00000283022. [Q4G0P3-10]
ENST00000634745; ENSP00000489246; ENSG00000283022. [Q4G0P3-5]
ENST00000635381; ENSP00000489526; ENSG00000283022. [Q4G0P3-1]
GeneIDi54768.
KEGGihsa:54768.
UCSCiuc010vmc.3. human. [Q4G0P3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001270974.2. [Q4G0P3-1]
NP_060028.2. NM_017558.4. [Q4G0P3-5]
UniGeneiHs.351914.
Hs.461229.
Hs.744828.
Hs.745353.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E6JNMR-A459-563[»]
2YS4NMR-A182-296[»]
ProteinModelPortaliQ4G0P3.
SMRiQ4G0P3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120142. 2 interactors.
IntActiQ4G0P3. 1 interactor.
STRINGi9606.ENSP00000314736.

PTM databases

iPTMnetiQ4G0P3.
PhosphoSitePlusiQ4G0P3.

Polymorphism and mutation databases

BioMutaiHYDIN.
DMDMi327478578.

Proteomic databases

EPDiQ4G0P3.
MaxQBiQ4G0P3.
PaxDbiQ4G0P3.
PeptideAtlasiQ4G0P3.
PRIDEiQ4G0P3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321489; ENSP00000314736; ENSG00000157423. [Q4G0P3-5]
ENST00000393567; ENSP00000377197; ENSG00000157423. [Q4G0P3-1]
ENST00000538248; ENSP00000444970; ENSG00000157423. [Q4G0P3-8]
ENST00000541601; ENSP00000437341; ENSG00000157423. [Q4G0P3-10]
ENST00000634268; ENSP00000489181; ENSG00000283022. [Q4G0P3-8]
ENST00000634392; ENSP00000489221; ENSG00000283022. [Q4G0P3-10]
ENST00000634745; ENSP00000489246; ENSG00000283022. [Q4G0P3-5]
ENST00000635381; ENSP00000489526; ENSG00000283022. [Q4G0P3-1]
GeneIDi54768.
KEGGihsa:54768.
UCSCiuc010vmc.3. human. [Q4G0P3-1]

Organism-specific databases

CTDi54768.
DisGeNETi54768.
GeneCardsiHYDIN.
GeneReviewsiHYDIN.
H-InvDBHIX0021241.
HIX0161592.
HGNCiHGNC:19368. HYDIN.
HPAiCAB026151.
MalaCardsiHYDIN.
MIMi608647. phenotype.
610812. gene.
neXtProtiNX_Q4G0P3.
OpenTargetsiENSG00000157423.
ENSG00000283022.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA134866950.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE17. Eukaryota.
ENOG410XT7J. LUCA.
GeneTreeiENSGT00610000086095.
HOGENOMiHOG000171495.
HOVERGENiHBG099337.
InParanoidiQ4G0P3.
KOiK17570.
OMAiPTVHICL.
OrthoDBiEOG091G001F.
PhylomeDBiQ4G0P3.
TreeFamiTF340616.

Enzyme and pathway databases

BioCyciZFISH:G66-33211-MONOMER.

Miscellaneous databases

ChiTaRSiHYDIN. human.
EvolutionaryTraceiQ4G0P3.
GenomeRNAii54768.
PROiQ4G0P3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000157423.
CleanExiHS_HYDIN.
ExpressionAtlasiQ4G0P3. baseline and differential.
GenevisibleiQ4G0P3. HS.

Family and domain databases

Gene3Di2.60.40.360. 2 hits.
3.40.50.300. 2 hits.
InterProiIPR031549. ASH.
IPR033305. Hydin.
IPR033768. Hydin_ADK.
IPR027417. P-loop_NTPase.
IPR008962. PapD-like.
[Graphical view]
PANTHERiPTHR23053:SF16. PTHR23053:SF16. 8 hits.
PfamiPF15780. ASH. 1 hit.
PF17213. Hydin_ADK. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 111 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

Similar proteinsi

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