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Protein

Cytoplasmic dynein 2 heavy chain 1

Gene

DYNC2H1

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

Functioni

May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi145 – 1528ATPSequence Analysis
Nucleotide bindingi1689 – 16968ATPSequence Analysis
Nucleotide bindingi1979 – 19868ATPSequence Analysis
Nucleotide bindingi2291 – 22988ATPSequence Analysis
Nucleotide bindingi2655 – 26628ATPSequence Analysis

GO - Molecular functioni

  • ATPase activity Source: InterPro
  • ATP binding Source: UniProtKB-KW
  • microtubule motor activity Source: InterPro
  • motor activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Motor protein

Keywords - Biological processi

Cilium biogenesis/degradation

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_121399. MHC class II antigen presentation.
REACT_268024. Intraflagellar transport.
REACT_268323. Hedgehog 'off' state.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytoplasmic dynein 2 heavy chain 1
Alternative name(s):
Cytoplasmic dynein 2 heavy chain
Dynein cytoplasmic heavy chain 2
Dynein heavy chain 11
Short name:
hDHC11
Dynein heavy chain isotype 1B
Gene namesi
Name:DYNC2H1
Synonyms:DHC1B, DHC2, DNCH2, DYH1B, KIAA1997
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:2962. DYNC2H1.

Subcellular locationi

GO - Cellular componenti

  • apical part of cell Source: Ensembl
  • axoneme Source: Ensembl
  • ciliary tip Source: Reactome
  • cytosol Source: Reactome
  • dynein complex Source: UniProtKB-KW
  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • microtubule Source: UniProtKB
  • motile primary cilium Source: Ensembl
  • plasma membrane Source: UniProtKB-SubCell
  • primary cilium Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Membrane, Microtubule

Pathology & Biotechi

Involvement in diseasei

Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)4 Publications

The disease is caused by mutations affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).

Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.

See also OMIM:613091
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti209 – 2091F → I in SRTD3. 1 Publication
VAR_063242
Natural varianti330 – 3301R → C in SRTD3. 2 Publications
VAR_069591
Natural varianti338 – 3381R → G in SRTD3. 1 Publication
VAR_069592
Natural varianti430 – 4301R → C in SRTD3. 1 Publication
VAR_069593
Natural varianti495 – 4951K → R in SRTD3. 1 Publication
VAR_069594
Natural varianti587 – 5871R → C in SRTD3. 1 Publication
VAR_063243
Natural varianti871 – 8711L → P in SRTD3. 1 Publication
VAR_069595
Natural varianti1228 – 12281L → I in SRTD3. 1 Publication
VAR_069596
Natural varianti1240 – 12401I → T in SRTD3. 2 Publications
VAR_063244
Natural varianti1379 – 13791M → V in SRTD3. 1 Publication
VAR_069597
Natural varianti1423 – 14231R → C in SRTD3. 1 Publication
VAR_069598
Natural varianti1442 – 14421G → D in SRTD3. 1 Publication
VAR_069599
Natural varianti1537 – 15371Q → R in SRTD3.
VAR_063245
Natural varianti1987 – 19871T → A in SRTD3. 1 Publication
VAR_063246
Natural varianti1991 – 19911M → K in SRTD3. 1 Publication
VAR_069600
Natural varianti1991 – 19911M → L in SRTD3. 1 Publication
VAR_063247
Natural varianti2205 – 22051R → H in SRTD3. 1 Publication
VAR_063248
Natural varianti2227 – 22271M → V in SRTD3. 1 Publication
VAR_069601
Natural varianti2304 – 23041A → T in SRTD3. 1 Publication
VAR_069602
Natural varianti2362 – 23621N → S in SRTD3. 1 Publication
VAR_069603
Natural varianti2461 – 24611G → V in SRTD3. 1 Publication
VAR_063249
Natural varianti2481 – 24811R → Q in SRTD3. 1 Publication
VAR_069604
Natural varianti2496 – 24961P → S in SRTD3. 1 Publication
VAR_069605
Natural varianti2532 – 25321R → W in SRTD3. 1 Publication
VAR_069606
Natural varianti2555 – 25551V → M in SRTD3. 1 Publication
VAR_069607
Natural varianti2573 – 25731Y → C in SRTD3. 1 Publication
VAR_069608
Natural varianti2640 – 26401I → T in SRTD3. 1 Publication
VAR_069609
Natural varianti2662 – 26621R → Q in SRTD3. 1 Publication
VAR_069610
Natural varianti2819 – 28191I → M in SRTD3. 1 Publication
VAR_069611
Natural varianti3015 – 30151D → G in SRTD3. 2 Publications
VAR_063250
Natural varianti3381 – 33811P → L in SRTD3. 1 Publication
VAR_069612
Natural varianti3762 – 37621L → V in SRTD3. 1 Publication
VAR_063251
Natural varianti3806 – 38061R → C in SRTD3. 1 Publication
VAR_069613
Natural varianti3847 – 38471W → G in SRTD3. 1 Publication
VAR_069614
Natural varianti4232 – 42321L → R in SRTD3. 1 Publication
VAR_069616

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

MIMi613091. phenotype.
Orphaneti474. Jeune syndrome.
93269. Short rib-polydactyly syndrome, Majewski type.
93271. Short rib-polydactyly syndrome, Verma-Naumoff type.

Polymorphism and mutation databases

BioMutaiDYNC2H1.
DMDMi311033479.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 43074307Cytoplasmic dynein 2 heavy chain 1PRO_0000318743Add
BLAST

Proteomic databases

MaxQBiQ8NCM8.
PaxDbiQ8NCM8.
PRIDEiQ8NCM8.

PTM databases

PhosphoSiteiQ8NCM8.

Expressioni

Gene expression databases

BgeeiQ8NCM8.
ExpressionAtlasiQ8NCM8. baseline and differential.
GenevestigatoriQ8NCM8.

Organism-specific databases

HPAiHPA039015.
HPA039016.

Interactioni

Subunit structurei

The cytoplasmic dynein complex 2 is probably composed by a heavy chain DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains.By similarity

Protein-protein interaction databases

BioGridi122785. 12 interactions.
IntActiQ8NCM8. 4 interactions.
MINTiMINT-8188622.

Structurei

Secondary structure

1
4307
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi1257 – 127317Combined sources
Beta strandi1278 – 12814Combined sources
Beta strandi1289 – 12924Combined sources
Helixi1295 – 131420Combined sources
Helixi1316 – 13216Combined sources
Helixi1322 – 135837Combined sources
Helixi1362 – 138423Combined sources
Helixi1389 – 13924Combined sources
Helixi1397 – 142529Combined sources
Helixi1427 – 14315Combined sources
Helixi1434 – 14429Combined sources
Helixi1447 – 14548Combined sources
Turni1455 – 14573Combined sources
Beta strandi1458 – 14603Combined sources
Beta strandi1462 – 14643Combined sources
Beta strandi1475 – 14773Combined sources
Beta strandi1483 – 14853Combined sources
Helixi1496 – 152328Combined sources
Beta strandi1524 – 15263Combined sources
Turni1531 – 15333Combined sources
Helixi1536 – 155722Combined sources
Helixi1561 – 158020Combined sources
Beta strandi1583 – 15864Combined sources
Helixi1593 – 161624Combined sources
Helixi1624 – 16285Combined sources
Beta strandi1631 – 16344Combined sources
Beta strandi1640 – 16445Combined sources
Beta strandi1647 – 16504Combined sources
Helixi1666 – 168116Combined sources
Beta strandi1684 – 16885Combined sources
Helixi1695 – 170511Combined sources
Beta strandi1710 – 17145Combined sources
Helixi1721 – 173414Combined sources
Beta strandi1737 – 17426Combined sources
Helixi1748 – 176720Combined sources
Beta strandi1770 – 17745Combined sources
Beta strandi1777 – 17804Combined sources
Beta strandi1786 – 17916Combined sources
Turni1796 – 17983Combined sources
Helixi1806 – 18094Combined sources
Beta strandi1812 – 18165Combined sources
Helixi1823 – 183311Combined sources
Helixi1838 – 185518Combined sources
Helixi1866 – 188621Combined sources
Helixi1891 – 190616Combined sources
Turni1907 – 19093Combined sources
Helixi1912 – 192514Combined sources
Turni1927 – 19293Combined sources
Helixi1938 – 195013Combined sources
Helixi1956 – 197116Combined sources
Beta strandi1973 – 19786Combined sources
Helixi1985 – 199915Combined sources
Beta strandi2004 – 20085Combined sources
Turni2010 – 20123Combined sources
Helixi2015 – 20195Combined sources
Beta strandi2021 – 20233Combined sources
Turni2024 – 20274Combined sources
Beta strandi2028 – 20303Combined sources
Helixi2033 – 204311Combined sources
Beta strandi2050 – 20567Combined sources
Helixi2060 – 20634Combined sources
Helixi2064 – 20663Combined sources
Helixi2067 – 20704Combined sources
Beta strandi2071 – 20733Combined sources
Beta strandi2090 – 20978Combined sources
Helixi2104 – 21096Combined sources
Beta strandi2110 – 21145Combined sources
Turni2117 – 21193Combined sources
Helixi2122 – 213211Combined sources
Helixi2138 – 215922Combined sources
Helixi2168 – 217710Combined sources
Helixi2185 – 219713Combined sources
Helixi2202 – 221514Combined sources
Beta strandi2216 – 22183Combined sources
Helixi2226 – 22283Combined sources
Turni2233 – 22353Combined sources
Turni2251 – 22544Combined sources
Beta strandi2256 – 22594Combined sources
Helixi2266 – 227914Combined sources
Helixi2281 – 22833Combined sources
Beta strandi2287 – 22904Combined sources
Helixi2297 – 230711Combined sources
Beta strandi2312 – 23165Combined sources
Helixi2324 – 23329Combined sources
Beta strandi2341 – 23433Combined sources
Beta strandi2348 – 23503Combined sources
Beta strandi2352 – 23598Combined sources
Helixi2373 – 238412Combined sources
Beta strandi2385 – 23884Combined sources
Beta strandi2390 – 23923Combined sources
Beta strandi2394 – 23974Combined sources
Beta strandi2401 – 24066Combined sources
Helixi2419 – 24224Combined sources
Beta strandi2425 – 24295Combined sources
Helixi2435 – 245218Combined sources
Beta strandi2455 – 24617Combined sources
Helixi2463 – 248321Combined sources
Turni2486 – 24883Combined sources
Helixi2496 – 25049Combined sources
Helixi2505 – 25084Combined sources
Helixi2520 – 253415Combined sources
Turni2535 – 25384Combined sources
Helixi2542 – 255918Combined sources
Beta strandi2560 – 25623Combined sources
Beta strandi2571 – 25777Combined sources
Helixi2579 – 25813Combined sources
Beta strandi2599 – 26035Combined sources
Helixi2604 – 262118Combined sources
Helixi2631 – 264515Combined sources
Beta strandi2651 – 26544Combined sources
Helixi2661 – 267212Combined sources
Beta strandi2675 – 26773Combined sources
Helixi2687 – 270216Combined sources
Beta strandi2708 – 27136Combined sources
Helixi2714 – 27163Combined sources
Helixi2721 – 273212Combined sources
Turni2736 – 27383Combined sources
Helixi2741 – 275818Combined sources
Helixi2764 – 277512Combined sources
Beta strandi2776 – 27827Combined sources
Beta strandi2784 – 27863Combined sources
Helixi2789 – 27957Combined sources
Helixi2798 – 28025Combined sources
Beta strandi2803 – 28075Combined sources
Helixi2813 – 282513Combined sources
Helixi2849 – 286214Combined sources
Turni2863 – 28653Combined sources
Helixi2869 – 2994126Combined sources
Helixi2998 – 30047Combined sources
Helixi3011 – 302313Combined sources
Helixi3031 – 30388Combined sources
Helixi3043 – 30464Combined sources
Turni3047 – 30493Combined sources
Helixi3057 – 307014Combined sources
Turni3071 – 30733Combined sources
Helixi3076 – 30805Combined sources
Turni3084 – 30874Combined sources
Helixi3088 – 3197110Combined sources
Helixi3200 – 321415Combined sources
Helixi3219 – 323315Combined sources
Helixi3240 – 32445Combined sources
Helixi3247 – 32559Combined sources
Helixi3262 – 32709Combined sources
Beta strandi3275 – 32817Combined sources
Helixi3286 – 329510Combined sources
Beta strandi3301 – 33033Combined sources
Helixi3310 – 332011Combined sources
Beta strandi3324 – 33274Combined sources
Helixi3334 – 33363Combined sources
Helixi3337 – 33404Combined sources
Beta strandi3344 – 33474Combined sources
Beta strandi3350 – 33556Combined sources
Beta strandi3358 – 33625Combined sources
Beta strandi3370 – 33756Combined sources
Helixi3381 – 33844Combined sources
Beta strandi3387 – 33915Combined sources
Helixi3396 – 341116Combined sources
Helixi3413 – 344634Combined sources
Beta strandi3447 – 34493Combined sources
Turni3451 – 34533Combined sources
Helixi3455 – 349036Combined sources
Helixi3493 – 351220Combined sources
Helixi3520 – 353213Combined sources
Helixi3540 – 356223Combined sources
Helixi3565 – 357915Combined sources
Beta strandi3582 – 35843Combined sources
Helixi3588 – 35936Combined sources
Beta strandi3616 – 36183Combined sources
Helixi3620 – 363213Combined sources
Helixi3634 – 36407Combined sources
Turni3641 – 36444Combined sources
Helixi3647 – 36537Combined sources
Helixi3658 – 36603Combined sources
Helixi3663 – 36686Combined sources
Helixi3673 – 36819Combined sources
Helixi3683 – 369816Combined sources
Helixi3710 – 37145Combined sources
Beta strandi3723 – 37264Combined sources
Helixi3734 – 374411Combined sources
Beta strandi3751 – 37544Combined sources
Helixi3759 – 377315Combined sources
Beta strandi3776 – 37805Combined sources
Helixi3782 – 37843Combined sources
Turni3786 – 37883Combined sources
Helixi3789 – 379810Combined sources
Beta strandi3806 – 38116Combined sources
Helixi3819 – 38235Combined sources
Beta strandi3824 – 38296Combined sources
Helixi3836 – 384611Combined sources
Helixi3849 – 38524Combined sources
Turni3855 – 38606Combined sources
Helixi3861 – 387717Combined sources
Turni3881 – 38844Combined sources
Helixi3893 – 390816Combined sources
Beta strandi3909 – 39113Combined sources
Helixi3916 – 392510Combined sources
Turni3928 – 39303Combined sources
Helixi3934 – 394815Combined sources
Turni3967 – 39693Combined sources
Helixi3977 – 398610Combined sources
Helixi3993 – 39964Combined sources
Helixi4001 – 402020Combined sources
Helixi4031 – 40366Combined sources
Helixi4041 – 405111Combined sources
Helixi4055 – 40595Combined sources
Helixi4071 – 410232Combined sources
Helixi4109 – 412012Combined sources
Helixi4125 – 41306Combined sources
Helixi4137 – 415923Combined sources
Turni4163 – 41653Combined sources
Helixi4170 – 41723Combined sources
Helixi4176 – 419116Combined sources
Helixi4195 – 41973Combined sources
Beta strandi4198 – 42025Combined sources
Beta strandi4204 – 42063Combined sources
Beta strandi4212 – 42176Combined sources
Beta strandi4221 – 42288Combined sources
Beta strandi4231 – 42333Combined sources
Beta strandi4237 – 42393Combined sources
Beta strandi4241 – 42444Combined sources
Beta strandi4248 – 42547Combined sources
Turni4263 – 42653Combined sources
Beta strandi4266 – 427611Combined sources
Beta strandi4279 – 42879Combined sources
Helixi4292 – 42987Combined sources
Beta strandi4301 – 43033Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4RH7X-ray3.41A1091-4307[»]
ProteinModelPortaliQ8NCM8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 16501650StemBy similarityAdd
BLAST
Regioni1651 – 1875225AAA 1By similarityAdd
BLAST
Regioni1938 – 2161224AAA 2By similarityAdd
BLAST
Regioni2251 – 2505255AAA 3By similarityAdd
BLAST
Regioni2617 – 2863247AAA 4By similarityAdd
BLAST
Regioni2881 – 3169289StalkBy similarityAdd
BLAST
Regioni3244 – 3473230AAA 5By similarityAdd
BLAST
Regioni3690 – 3905216AAA 6By similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1074 – 110330Sequence AnalysisAdd
BLAST
Coiled coili2897 – 298286Sequence AnalysisAdd
BLAST
Coiled coili3109 – 320092Sequence AnalysisAdd
BLAST
Coiled coili3408 – 344235Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the dynein heavy chain family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiCOG5245.
GeneTreeiENSGT00760000118964.
HOVERGENiHBG107832.
InParanoidiQ8NCM8.
KOiK10414.
OMAiQTIYSAY.
OrthoDBiEOG773XF5.
PhylomeDBiQ8NCM8.
TreeFamiTF315251.

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011704. ATPase_dyneun-rel_AAA.
IPR026983. DHC_fam.
IPR026815. DYNC2H1.
IPR024743. Dynein_HC_stalk.
IPR024317. Dynein_heavy_chain_D4_dom.
IPR004273. Dynein_heavy_dom.
IPR013594. Dynein_heavy_dom-1.
IPR013602. Dynein_heavy_dom-2.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10676. PTHR10676. 1 hit.
PTHR10676:SF34. PTHR10676:SF34. 1 hit.
PfamiPF07728. AAA_5. 1 hit.
PF12780. AAA_8. 1 hit.
PF08385. DHC_N1. 1 hit.
PF08393. DHC_N2. 1 hit.
PF03028. Dynein_heavy. 1 hit.
PF12777. MT. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 3 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NCM8-1) [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
MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML
60 70 80 90 100
LRVQRSDAGI SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM
110 120 130 140 150
LESPISSLYQ AVRQVFAPML LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR
160 170 180 190 200
RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI EQAHRGNKQI SKERANYFKE
210 220 230 240 250
LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH DHYPESRMLH
260 270 280 290 300
LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH
310 320 330 340 350
LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA
360 370 380 390 400
SEEKIICLTR VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA
410 420 430 440 450
GKLKNYISEI QDSPQQLLQA FLKYKELVKR PTISKELMLE RETLLARLVD
460 470 480 490 500
SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS EVVNSIVWVR QLELKVDDTI
510 520 530 540 550
KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR DIQSGLSDSR
560 570 580 590 600
SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVRQLS ALGFVIPAKI
610 620 630 640 650
QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII
660 670 680 690 700
KNSKAGSGGK SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC
710 720 730 740 750
EKVVVLMNID LLRQQQRWKD GLQELRTGLA TVEAQGFQAS DMHAWKQHWN
760 770 780 790 800
HQLYKALEHQ YQMGLEALNE NLPEINIDLT YKQGRLQFRP PFEEIRAKYY
810 820 830 840 850
REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF SKAEDLFRRL
860 870 880 890 900
SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP
910 920 930 940 950
SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT
960 970 980 990 1000
EAMEVLTIMP QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV
1010 1020 1030 1040 1050
AGGGLETISN LKAKWDKFEL MMESHQLMIK DQIEVMKGNV KSRLQIYYQE
1060 1070 1080 1090 1100
LEKFKARWDQ LKPGDDVIET GQHNTLDKSA KLIKEKKIEF DDLEVTRKKL
1110 1120 1130 1140 1150
VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG FQEMANEDWI
1160 1170 1180 1190 1200
TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV
1210 1220 1230 1240 1250
RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL
1260 1270 1280 1290 1300
NSRAQGEVTI REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN
1310 1320 1330 1340 1350
QVGDNRCLLQ SLKDSPYYKG FEDKVSIWER KLAELDEYLQ NLNHIQRKWV
1360 1370 1380 1390 1400
YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT DIKKDNRVTT LTTHAGIRNS
1410 1420 1430 1440 1450
LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI LGQSTNPSVI
1460 1470 1480 1490 1500
QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL
1510 1520 1530 1540 1550
NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSQILC LAEQIKFTED
1560 1570 1580 1590 1600
VENAIKDHSL HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI
1610 1620 1630 1640 1650
LDIIHNIDVV KQLNQIQVHT TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ
1660 1670 1680 1690 1700
YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK MGLGGNPYGP AGTGKTESVK
1710 1720 1730 1740 1750
ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF DEFNRLEESV
1760 1770 1780 1790 1800
LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG
1810 1820 1830 1840 1850
RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN
1860 1870 1880 1890 1900
LSRELLTPQQ HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ
1910 1920 1930 1940 1950
ALRLNTMSKF TFTDCTRFDA LIKDVFPGIE LKEVEYDELS AALKQVFEEA
1960 1970 1980 1990 2000
NYEIIPNQIK KALELYEQLC QRMGVVIVGP SGAGKSTLWR MLRAALCKTG
2010 2020 2030 2040 2050
KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ VVREPQDVSS
2060 2070 2080 2090 2100
WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS
2110 2120 2130 2140 2150
CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE
2160 2170 2180 2190 2200
KALQWVLKQN DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL
2210 2220 2230 2240 2250
NMKSRLEFTK EVFHWARESP PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT
2260 2270 2280 2290 2300
ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS SDTKQPFILV GPEGCGKGML
2310 2320 2330 2340 2350
LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST NTGRVYRPKD
2360 2370 2380 2390 2400
CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI
2410 2420 2430 2440 2450
QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL
2460 2470 2480 2490 2500
HKNLKNHSIW GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT
2510 2520 2530 2540 2550
QWVLGLFRYD LEGGSSNHPL DYVLEIVAYE ARRLFRDKIV GAKELHLFDI
2560 2570 2580 2590 2600
ILTSVFQGDW GSDILDNMSD SFYVTWGARH NSGARAAPGQ PLPPHGKPLG
2610 2620 2630 2640 2650
KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI DRVLSFPGGS
2660 2670 2680 2690 2700
LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL
2710 2720 2730 2740 2750
AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP
2760 2770 2780 2790 2800
LKDQASQDGF FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH
2810 2820 2830 2840 2850
KKCQVLWMEG WSNSSMKKIP EMLFSETGGG EKYNDKKRKE EKKKNSVDPD
2860 2870 2880 2890 2900
FLKSFLLIHE SCKAYGATPS RYMTFLHVYS AISSSKKKEL LKRQSHLQAG
2910 2920 2930 2940 2950
VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT VSMQDASEQK
2960 2970 2980 2990 3000
TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL
3010 3020 3030 3040 3050
SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF
3060 3070 3080 3090 3100
DARNISKEIR ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS
3110 3120 3130 3140 3150
HVLERIHPLE TEQAGLESNL KKTEDRKRKL EELLNSVGQK VSELKEKFQS
3160 3170 3180 3190 3200
RTSEAAKLEA EVSKAQETIK AAEVLINQLD REHKRWNAQV VEITEELATL
3210 3220 3230 3240 3250
PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL RRFLCTESEQ
3260 3270 3280 3290 3300
LIWKSEGLPS DDLSIENALV ILQSRVCPFL IDPSSQATEW LKTHLKDSRL
3310 3320 3330 3340 3350
EVINQQDSNF ITALELAVRF GKTLIIQEMD GVEPVLYPLL RRDLVAQGPR
3360 3370 3380 3390 3400
YVVQIGDKII DYNEEFRLFL STRNPNPFIP PDAASIVTEV NFTTTRSGLR
3410 3420 3430 3440 3450
GQLLALTIQH EKPDLEEQKT KLLQQEEDKK IQLAKLEESL LETLATSQGN
3460 3470 3480 3490 3500
ILENKDLIES LNQTKASSAL IQESLKESYK LQISLDQERD AYLPLAESAS
3510 3520 3530 3540 3550
KMYFIISDLS KINNMYRFSL AAFLRLFQRA LQNKQDSENT EQRIQSLISS
3560 3570 3580 3590 3600
LQHMVYEYIC RCLFKADQLM FALHFVRGMH PELFQENEWD TFTGVVVGDM
3610 3620 3630 3640 3650
LRKADSQQKI RDQLPSWIDQ ERSWAVATLK IALPSLYQTL CFEDAALWRT
3660 3670 3680 3690 3700
YYNNSMCEQE FPSILAKKVS LFQQILVVQA LRPDRLQSAM ALFACKTLGL
3710 3720 3730 3740 3750
KEVSPLPLNL KRLYKETLEI EPILIIISPG ADPSQELQEL ANAERSGECY
3760 3770 3780 3790 3800
HQVAMGQGQA DLAIQMLKEC ARNGDWLCLK NLHLVVSWLP VLEKELNTLQ
3810 3820 3830 3840 3850
PKDTFRLWLT AEVHPNFTPI LLQSSLKITY ESPPGLKKNL MRTYESWTPE
3860 3870 3880 3890 3900
QISKKDNTHR AHALFSLAWF HAACQERRNY IPQGWTKFYE FSLSDLRAGY
3910 3920 3930 3940 3950
NIIDRLFDGA KDVQWEFVHG LLENAIYGGR IDNYFDLRVL QSYLKQFFNS
3960 3970 3980 3990 4000
SVIDVFNQRN KKSIFPYSVS LPQSCSILDY RAVIEKIPED DKPSFFGLPA
4010 4020 4030 4040 4050
NIARSSQRMI SSQVISQLRI LGRSITAGSK FDREIWSNEL SPVLNLWKKL
4060 4070 4080 4090 4100
NQNSNLIHQK VPPPNDRQGS PILSFIILEQ FNAIRLVQSV HQSLAALSKV
4110 4120 4130 4140 4150
IRGTTLLSSE VQKLASALLN QKCPLAWQSK WEGPEDPLQY LRGLVARALA
4160 4170 4180 4190 4200
IQNWVDKAEK QALLSETLDL SELFHPDTFL NALRQETARA VGRSVDSLKF
4210 4220 4230 4240 4250
VASWKGRLQE AKLQIKISGL LLEGCSFDGN QLSENQLDSP SVSSVLPCFM
4260 4270 4280 4290 4300
GWIPQDACGP YSPDECISLP VYTSAERDRV VTNIDVPCGG NQDQWIQCGA

ALFLKNQ
Length:4,307
Mass (Da):492,622
Last modified:November 2, 2010 - v4
Checksum:i54B60DEE419B7E9D
GO
Isoform 2 (identifier: Q8NCM8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3273-3273: Q → QIIGLKSW

Note: No experimental confirmation available.

Show »
Length:4,314
Mass (Da):493,420
Checksum:i5727DDAAA0693332
GO
Isoform 3 (identifier: Q8NCM8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     736-4122: Missing.

Note: No experimental confirmation available.

Show »
Length:920
Mass (Da):105,369
Checksum:i6CBCEEF9DEF5869D
GO

Sequence cautioni

The sequence BAB13905.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC04578.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD18598.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti174 – 1741D → G in BAE17138 (Ref. 1) Curated
Sequence conflicti178 – 1781F → L in BAE17138 (Ref. 1) Curated
Sequence conflicti594 – 5941F → L in BAE17138 (Ref. 1) Curated
Sequence conflicti1120 – 11201I → N in AAB09728 (PubMed:8666668).Curated
Sequence conflicti1168 – 11681D → V in AAB09728 (PubMed:8666668).Curated
Sequence conflicti1784 – 17841N → H in CAB06054 (PubMed:9373155).Curated
Sequence conflicti1864 – 18641W → Y in CAB06054 (PubMed:9373155).Curated
Sequence conflicti1866 – 18672LR → FS in CAB06054 (PubMed:9373155).Curated
Sequence conflicti1930 – 19301E → K in BAE46899 (Ref. 1) Curated
Sequence conflicti3095 – 30951A → V in CAD98012 (PubMed:17974005).Curated
Sequence conflicti3665 – 36651L → P in CAD98012 (PubMed:17974005).Curated
Sequence conflicti4258 – 42581C → R in BAB13905 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti209 – 2091F → I in SRTD3. 1 Publication
VAR_063242
Natural varianti302 – 3021T → P.
Corresponds to variant rs12803695 [ dbSNP | Ensembl ].
VAR_038862
Natural varianti304 – 3041Q → L.
Corresponds to variant rs12146610 [ dbSNP | Ensembl ].
VAR_038863
Natural varianti330 – 3301R → C in SRTD3. 2 Publications
VAR_069591
Natural varianti338 – 3381R → G in SRTD3. 1 Publication
VAR_069592
Natural varianti341 – 3411H → Y.
Corresponds to variant rs17301182 [ dbSNP | Ensembl ].
VAR_038864
Natural varianti430 – 4301R → C in SRTD3. 1 Publication
VAR_069593
Natural varianti456 – 4561R → Q.
Corresponds to variant rs17099969 [ dbSNP | Ensembl ].
VAR_038865
Natural varianti495 – 4951K → R in SRTD3. 1 Publication
VAR_069594
Natural varianti587 – 5871R → C in SRTD3. 1 Publication
VAR_063243
Natural varianti789 – 7891R → K.
Corresponds to variant rs7358374 [ dbSNP | Ensembl ].
VAR_038866
Natural varianti871 – 8711L → P in SRTD3. 1 Publication
VAR_069595
Natural varianti1221 – 12211R → K.
Corresponds to variant rs12794914 [ dbSNP | Ensembl ].
VAR_038867
Natural varianti1228 – 12281L → I in SRTD3. 1 Publication
VAR_069596
Natural varianti1240 – 12401I → T in SRTD3. 2 Publications
VAR_063244
Natural varianti1288 – 12881T → A.
Corresponds to variant rs17301750 [ dbSNP | Ensembl ].
VAR_038868
Natural varianti1379 – 13791M → V in SRTD3. 1 Publication
VAR_069597
Natural varianti1413 – 14131K → R.1 Publication
Corresponds to variant rs688906 [ dbSNP | Ensembl ].
VAR_038869
Natural varianti1423 – 14231R → C in SRTD3. 1 Publication
VAR_069598
Natural varianti1442 – 14421G → D in SRTD3. 1 Publication
VAR_069599
Natural varianti1537 – 15371Q → R in SRTD3.
VAR_063245
Natural varianti1987 – 19871T → A in SRTD3. 1 Publication
VAR_063246
Natural varianti1991 – 19911M → K in SRTD3. 1 Publication
VAR_069600
Natural varianti1991 – 19911M → L in SRTD3. 1 Publication
VAR_063247
Natural varianti2205 – 22051R → H in SRTD3. 1 Publication
VAR_063248
Natural varianti2227 – 22271M → V in SRTD3. 1 Publication
VAR_069601
Natural varianti2304 – 23041A → T in SRTD3. 1 Publication
VAR_069602
Natural varianti2362 – 23621N → S in SRTD3. 1 Publication
VAR_069603
Natural varianti2461 – 24611G → V in SRTD3. 1 Publication
VAR_063249
Natural varianti2481 – 24811R → Q in SRTD3. 1 Publication
VAR_069604
Natural varianti2496 – 24961P → S in SRTD3. 1 Publication
VAR_069605
Natural varianti2532 – 25321R → W in SRTD3. 1 Publication
VAR_069606
Natural varianti2555 – 25551V → M in SRTD3. 1 Publication
VAR_069607
Natural varianti2573 – 25731Y → C in SRTD3. 1 Publication
VAR_069608
Natural varianti2640 – 26401I → T in SRTD3. 1 Publication
VAR_069609
Natural varianti2662 – 26621R → Q in SRTD3. 1 Publication
VAR_069610
Natural varianti2819 – 28191I → M in SRTD3. 1 Publication
VAR_069611
Natural varianti2871 – 28711R → Q.2 Publications
Corresponds to variant rs589623 [ dbSNP | Ensembl ].
VAR_038870
Natural varianti3015 – 30151D → G in SRTD3. 2 Publications
VAR_063250
Natural varianti3381 – 33811P → L in SRTD3. 1 Publication
VAR_069612
Natural varianti3680 – 36801A → V.1 Publication
Corresponds to variant rs10895391 [ dbSNP | Ensembl ].
VAR_038871
Natural varianti3762 – 37621L → V in SRTD3. 1 Publication
VAR_063251
Natural varianti3806 – 38061R → C in SRTD3. 1 Publication
VAR_069613
Natural varianti3847 – 38471W → G in SRTD3. 1 Publication
VAR_069614
Natural varianti3909 – 39091G → D Probable disease-associated mutation found in short rib-polydactyly syndrome 3/6; digenic inheritance; the patient also carries a mutation in NEK1. 1 Publication
VAR_069615
Natural varianti3976 – 39761S → N.
Corresponds to variant rs4754914 [ dbSNP | Ensembl ].
VAR_038872
Natural varianti4139 – 41391Q → P.
Corresponds to variant rs1793493 [ dbSNP | Ensembl ].
VAR_038873
Natural varianti4232 – 42321L → R in SRTD3. 1 Publication
VAR_069616

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei736 – 41223387Missing in isoform 3. 1 PublicationVSP_031282Add
BLAST
Alternative sequencei3273 – 32731Q → QIIGLKSW in isoform 2. 1 PublicationVSP_031283

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB231765 mRNA. Translation: BAE46899.1.
AB231766 mRNA. Translation: BAE17138.1.
AP000817 Genomic DNA. No translation available.
AP001486 Genomic DNA. No translation available.
AP002829 Genomic DNA. No translation available.
AP002961 Genomic DNA. No translation available.
AP003382 Genomic DNA. No translation available.
AP003461 Genomic DNA. No translation available.
AK021818 mRNA. Translation: BAB13905.1. Different initiation.
AK095579 mRNA. Translation: BAC04578.1. Different initiation.
AK125524 mRNA. Translation: BAC86194.1.
AK131453 mRNA. Translation: BAD18598.1. Different initiation.
U53531 mRNA. Translation: AAB09728.1.
U20552 mRNA. Translation: AAB50020.1.
Z83800 mRNA. Translation: CAB06054.1.
BX538093 mRNA. Translation: CAD98012.1.
AB082528 mRNA. Translation: BAC02706.2.
CCDSiCCDS44717.1. [Q8NCM8-2]
CCDS53701.1. [Q8NCM8-1]
RefSeqiNP_001073932.1. NM_001080463.1. [Q8NCM8-2]
NP_001368.2. NM_001377.2. [Q8NCM8-1]
UniGeneiHs.503721.

Genome annotation databases

EnsembliENST00000334267; ENSP00000334021; ENSG00000187240. [Q8NCM8-3]
ENST00000375735; ENSP00000364887; ENSG00000187240. [Q8NCM8-1]
ENST00000398093; ENSP00000381167; ENSG00000187240. [Q8NCM8-2]
GeneIDi79659.
KEGGihsa:79659.
UCSCiuc001phn.1. human. [Q8NCM8-2]
uc001pho.2. human. [Q8NCM8-1]
uc009yxe.1. human. [Q8NCM8-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB231765 mRNA. Translation: BAE46899.1.
AB231766 mRNA. Translation: BAE17138.1.
AP000817 Genomic DNA. No translation available.
AP001486 Genomic DNA. No translation available.
AP002829 Genomic DNA. No translation available.
AP002961 Genomic DNA. No translation available.
AP003382 Genomic DNA. No translation available.
AP003461 Genomic DNA. No translation available.
AK021818 mRNA. Translation: BAB13905.1. Different initiation.
AK095579 mRNA. Translation: BAC04578.1. Different initiation.
AK125524 mRNA. Translation: BAC86194.1.
AK131453 mRNA. Translation: BAD18598.1. Different initiation.
U53531 mRNA. Translation: AAB09728.1.
U20552 mRNA. Translation: AAB50020.1.
Z83800 mRNA. Translation: CAB06054.1.
BX538093 mRNA. Translation: CAD98012.1.
AB082528 mRNA. Translation: BAC02706.2.
CCDSiCCDS44717.1. [Q8NCM8-2]
CCDS53701.1. [Q8NCM8-1]
RefSeqiNP_001073932.1. NM_001080463.1. [Q8NCM8-2]
NP_001368.2. NM_001377.2. [Q8NCM8-1]
UniGeneiHs.503721.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4RH7X-ray3.41A1091-4307[»]
ProteinModelPortaliQ8NCM8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122785. 12 interactions.
IntActiQ8NCM8. 4 interactions.
MINTiMINT-8188622.

PTM databases

PhosphoSiteiQ8NCM8.

Polymorphism and mutation databases

BioMutaiDYNC2H1.
DMDMi311033479.

Proteomic databases

MaxQBiQ8NCM8.
PaxDbiQ8NCM8.
PRIDEiQ8NCM8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334267; ENSP00000334021; ENSG00000187240. [Q8NCM8-3]
ENST00000375735; ENSP00000364887; ENSG00000187240. [Q8NCM8-1]
ENST00000398093; ENSP00000381167; ENSG00000187240. [Q8NCM8-2]
GeneIDi79659.
KEGGihsa:79659.
UCSCiuc001phn.1. human. [Q8NCM8-2]
uc001pho.2. human. [Q8NCM8-1]
uc009yxe.1. human. [Q8NCM8-3]

Organism-specific databases

CTDi79659.
GeneCardsiGC11P102980.
HGNCiHGNC:2962. DYNC2H1.
HPAiHPA039015.
HPA039016.